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Journal articles on the topic 'Rubinstein–Taybi syndrome, CREBBP mutations'

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Published: 9 March 2023

Last updated: 10 March 2023

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1

Chafai Elalaoui, Siham, Wiam Smaili, Julien Van-Gils, Patricia Fergelot, Ilham Ratbi, Mariam Tajir, Benoit Arveiler, Didier Lacombe, and Abdelaziz Sefiani. "Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome." African Health Sciences 21, no. 2 (August 2, 2021): 960–67. http://dx.doi.org/10.4314/ahs.v21i2.58.

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Background: Rubinstein-Taybi syndrome (RSTS; OMIM 180849) is a rare autosomal dominant developmental disorder with an estimated prevalence of one case per 125,000 live births. RSTS is characterized by typical face, broad thumbs and halluces, short stature, and intellectual disability. Facial dysmorphy is characteristic with microcephaly, low frontal hairline, arched eyebrows, long eyelashes, convex profile of nose, narrow palate, and micrognathia. RSTS is mainly due to mutations or microdeletions of the CREBBP gene (about 60%) and more rarely of the EP300 gene (8%). Objective: Clinical description and identification of mutations of patients with Rubinstein Taybi syndrome. Methods: PCR and direct sequencing of CREBBP gene. Results: We report here, the clinical and molecular data of a series of six Moroccan patients with a phenotype of RSTS. The molecular study of the major gene CREBBP (by Sanger Sequencing followed by CGH array, if sequence normal) revealed point mutations in five patients. For the sixth patient, CGH array revealed a microdeletion carrying the CREBBP gene. Through this work, we emphasize the importance of clinical expertise in the diagnosis, management and genetic counseling in Rubinstein Taybi syndrome. Keywords: Rubinstein Taybi syndrome; CREBBP gene; mutation; Moroccan.

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Arshi, J., D. Allison, and D. Rao. "Hepatoblastoma With Rubinstein-Taybi Syndrome: A Rare Association." American Journal of Clinical Pathology 154, Supplement_1 (October 2020): S55. http://dx.doi.org/10.1093/ajcp/aqaa161.118.

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Abstract Introduction/Objective Hepatoblastoma is a malignant neoplasm of liver, exclusively seen in pediatric population. It has been known to occur with various syndromes like Li-fraumeni, Beckwith-Wiedemann, and Simpson-Golabi- Behmel among others. Small undifferentiated cells and macro-trabecular pattern with increased mitotic activity and AFP>100 are associated with unfavorable prognosis. Rubinstein-Taybi syndrome is a rare genetic disease. Even though there has been intensive research on the genetic and epigenetic function of the CREBBP and EP300 genes in animal models, the etiology of this rare and devastating syndrome is largely unknown. Hepatoblastoma with Rubinstein-Taybi syndrome is an extremely rare occurrence. Methods Here we present an incidental case of Hepatoblastoma with Rubinstein-Taybi syndrome Results A 17-month-old Caucasian female with Rubinstein-Taybi syndrome, was found to have an incidental 1.1 cm nodule in the right lobe of liver. Her AFP was elevated (244.9ng/ml). Hepatic resection revealed a well-circumscribed tan white mass, measuring 3.5 cm in the greatest dimension. On microscopy, uniform round to cuboidal cells resembling fetal hepatocytes, with finely granular cytoplasm, small round nuclei, and indistinct nucleoli were seen. The cells were arranged in solid sheets and scant trabecular arrangement separated by narrow sinusoids. The tumor displayed predominantly fetal histology, with rare embryonal and small undifferentiated cell nests. The diagnosis of Hepatoblastoma was made. The patient underwent chemotherapy and was doing well at 5-years follow-up. Conclusion Extensive screening of patients in recent times has revealed mutations in CREBBP and EP300 in only around 50% of cases. The genetic and epigenetic associations of the syndrome in the remaining half of cases remains to be identified. Hepatoblastoma with Rubinstein-Taybi Syndrome is an extremely rare occurrence and might shed some light on other genes that could be involved in this syndrome. Further studies to review the mutation spectrum to understand the causative molecular mechanisms are deemed essential.

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Al-Qattan, Mohammad M., Zuhair A. Rahbeeni, Zuhair N. Al-Hassnan, Abdulaziz Jarman, Atif Rafique, Nehal Mahabbat, and Faris A. S. Alsufayan. "Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy." Case Reports in Genetics 2020 (January 9, 2020): 1–5. http://dx.doi.org/10.1155/2020/6143050.

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The classic Rubinstein–Taybi syndrome Type 1 (RSTS1, OMIM 180849) is caused by heterozygous mutations or deletions of the CREBBP gene. Herein, we describe the case of a Saudi boy with chromosome 16p13.3 contiguous gene deletion syndrome (OMIM 610543) including the SLX4, DNASE1, TRAP1, and CREBBP genes, but presenting with a relatively mild RSTS1 syndrome phenotype. Compared with previously reported cases with severe phenotypes associated with 16p13.3 contiguous gene deletions, our patient had partial deletion of the CREBBP gene (with a preserved 5′ region), which might explain his relatively mild phenotype.

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О.Р., Исмагилова,, Адян, Т.А., Бескоровайная, Т.С., and Поляков, А.В. "Molecular-genetic analysis of Rubinstein-Taybi syndrome in Russia." Nauchno-prakticheskii zhurnal «Medicinskaia genetika, no. 9 (September 30, 2022): 48–51. http://dx.doi.org/10.25557/2073-7998.2022.09.48-51.

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Синдром Рубинштейна-Тейби (СРТ) - редкая наследственная патология, характеризующаяся умственной отсталостью и задержкой физического развития в сочетании с определённым комплексом внешних проявлений и аномалиями различных органов и систем. Диагностический алгоритм нацелен на поиск мутаций в двух основных генах: CREBBP и EP300, обнаруживаемых примерно в 60% клинически определённых случаев СРТ. В настоящей работе представлены результаты молекулярно-генетического анализа выборки российских пациентов с СРТ. Несмотря на то, что около 40% пациентов не получают подтверждения клинического диагноза, существуют перспективы для более глубокого понимания патогенеза заболевания и усовершенствования принципов диагностики. Rubinstein-Taybi syndrome (RTS) - rare hereditary disorder characterized by intellectual disability and growth retardation in conjunction with specific craniofacial and skeletal features and a wide range of multiple congenital anomalies. To date, mutations in two genes: CREBBP and EP300 can be discovered in about 60% of clinically identified patients with RTS. We herein report the result of molecular analysis in a cohort of Russian RTS patients. Despite the fact that we cannot confirm the diagnosis of RTS in 40% of causes, there are possibility for a better understanding of causative molecular mechanisms and improving the diagnostic process.

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Van‐Gils, Julien, Sophie Naudion, Jérôme Toutain, Gwenaelle Lancelot, Tania Attié‐Bitach, Sophie Blesson, Bénédicte Demeer, et al. "Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations." Clinical Genetics 95, no. 3 (January 11, 2019): 420–26. http://dx.doi.org/10.1111/cge.13493.

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Sharma, Neeti, Avinash M. Mali, and Sharmila A. Bapat. "Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome." Journal of Biosciences 35, no. 2 (April 29, 2010): 187–202. http://dx.doi.org/10.1007/s12038-010-0023-5.

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Sima, Aurora, Roxana Elena Smădeanu, Anca Angela Simionescu, Florina Nedelea, Andreea-Maria Vlad, and Cristina Becheanu. "Menke–Hennekam Syndrome: A Literature Review and a New Case Report." Children 9, no. 5 (May 22, 2022): 759. http://dx.doi.org/10.3390/children9050759.

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Background: Menke–Hennekam syndrome (MHS) is a rare and recently described syndrome consecutive to the variants in exon 30 or 31 in CREBBP (CREB-binding protein gene). The CREB-binding protein (CREBBP) and EP300 genes are two commonly expressed genes whose products possess acetyltransferase activity for histones and various other proteins. Mutations that affect these two genes are known to cause Rubinstein–Taybi syndrome (RTS); however, with the application of whole exome sequencing (WES) there were reports of variants that affect specific regions of exon 30 or 31 of these two genes but without the specific phenotype of RTS. Material and Methods: A review of the available literature was conducted, aimed at underscoring the difficulties in diagnosing MHS based on phenotype particularities. Results: Five applicable studies were identified by searching PubMed, Web of Science, and Scopus databases for publications up to November 2021 using the key terms “Menke–Hennekam syndrome” and “CREBBP”. Conclusions: In this paper, we present a new case and highlight the importance of exome sequencing to identify different mutations of exons 30 and 31 of the CREBBP gene involved in MHS, and we make formal recommendations based on our literature review.

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Di Fede, Elisabetta, Valentina Massa, Bartolomeo Augello, Gabriella Squeo, Emanuela Scarano, Anna Maria Perri, Rita Fischetto, et al. "Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes." European Journal of Human Genetics 29, no. 1 (July 8, 2020): 88–98. http://dx.doi.org/10.1038/s41431-020-0679-8.

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AbstractLysine-specific methyltransferase 2A (KMT2A) is responsible for methylation of histone H3 (K4H3me) and contributes to chromatin remodeling, acting as “writer” of the epigenetic machinery. Mutations in KMT2A were first reported in Wiedemann–Steiner syndrome (WDSTS). More recently, KMT2A variants have been described in probands with a specific clinical diagnosis comprised in the so-called chromatinopathies. Such conditions, including WDSTS, are a group of overlapping disorders caused by mutations in genes coding for the epigenetic machinery. Among them, Rubinstein–Taybi syndrome (RSTS) is mainly caused by heterozygous pathogenic variants in CREBBP or EP300. In this work, we used next generation sequencing (either by custom-made panel or by whole exome) to identify alternative causative genes in individuals with a RSTS-like phenotype negative to CREBBP and EP300 mutational screening. In six patients we identified different novel unreported variants in KMT2A gene. The identified variants are de novo in at least four out of six tested individuals and all of them display some typical RSTS phenotypic features but also WDSTS specific signs. This study reinforces the concept that germline variants affecting the epigenetic machinery lead to a shared molecular effect (alteration of the chromatin state) determining superimposable clinical conditions.

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Dutto, Ilaria, Claudia Scalera, Micol Tillhon, Giulio Ticli, Gianluca Passaniti, Ornella Cazzalini, Monica Savio, et al. "Mutations in CREBBP and EP300 genes affect DNA repair of oxidative damage in Rubinstein-Taybi syndrome cells." Carcinogenesis 41, no. 3 (August 29, 2019): 257–66. http://dx.doi.org/10.1093/carcin/bgz149.

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Abstract Rubinstein-Taybi syndrome (RSTS) is an autosomal-dominant disorder characterized by intellectual disability, skeletal abnormalities, growth deficiency and an increased risk of tumors. RSTS is predominantly caused by mutations in CREBBP or EP300 genes encoding for CBP and p300 proteins, two lysine acetyl-transferases (KAT) playing a key role in transcription, cell proliferation and DNA repair. However, the efficiency of these processes in RSTS cells is still largely unknown. Here, we have investigated whether pathways involved in the maintenance of genome stability are affected in lymphoblastoid cell lines (LCLs) obtained from RSTS patients with mutations in CREBBP or in EP300 genes. We report that RSTS LCLs with mutations affecting CBP or p300 protein levels or KAT activity, are more sensitive to oxidative DNA damage and exhibit defective base excision repair (BER). We have found reduced OGG1 DNA glycosylase activity in RSTS compared to control cell extracts, and concomitant lower OGG1 acetylation levels, thereby impairing the initiation of the BER process. In addition, we report reduced acetylation of other BER factors, such as DNA polymerase β and Proliferating Cell Nuclear Antigen (PCNA), together with acetylation of histone H3. We also show that complementation of CBP or p300 partially reversed RSTS cell sensitivity to DNA damage. These results disclose a mechanism of defective DNA repair as a source of genome instability in RSTS cells.

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Alari, Valentina, Paolo Scalmani, Paola Francesca Ajmone, Sara Perego, Sabrina Avignone, Ilaria Catusi, Paola Adele Lonati, et al. "Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi Patients." International Journal of Molecular Sciences 22, no. 11 (May 28, 2021): 5777. http://dx.doi.org/10.3390/ijms22115777.

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Rubinstein-Taybi syndrome (RSTS) is a rare neurodevelopmental disorder caused by mutations in CREBBP or EP300 genes encoding CBP/p300 lysine acetyltransferases. We investigated the efficacy of the histone deacetylase inhibitor (HDACi) Trichostatin A (TSA) in ameliorating morphological abnormalities of iPSC-derived young neurons from P149 and P34 CREBBP-mutated patients and hypoexcitability of mature neurons from P149. Neural progenitors from both patients’ iPSC lines were cultured one week with TSA 20 nM and, only P149, for 6 weeks with TSA 0.2 nM, in parallel to neural progenitors from controls. Immunofluorescence of MAP2/TUJ1 positive cells using the Skeletonize Image J plugin evidenced that TSA partially rescued reduced nuclear area, and decreased branch length and abnormal end points number of both 45 days patients’ neurons, but did not influence the diminished percentage of their neurons with respect to controls. Patch clamp recordings of TSA-treated post-mitotic P149 neurons showed complete/partial rescue of sodium/potassium currents and significant enhancement of neuron excitability compared to untreated replicas. Correction of abnormalities of P149 young neurons was also affected by valproic acid 1 mM for 72 h, with some variation, with respect to TSA, on the morphological parameter. These findings hold promise for development of an epigenetic therapy to attenuate RSTS patients cognitive impairment.

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del Campo, Regina M. Navarro-Martin, Juan Luis Soto-Mancilla, Luis A. Arredondo-Navarro, Ana L. Orozco-Alvarado, and Fernando A. Sanchez-Zubieta. "LINC-16. MEDULLOBLASTOMA IN A BOY WITH RUBINSTEIN-TAYBI SYNDROME: A CASE REPORT." Neuro-Oncology 22, Supplement_3 (December 1, 2020): iii381. http://dx.doi.org/10.1093/neuonc/noaa222.451.

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Abstract BACKGROUND Rubinstein–Taybi syndrome (RTS) is characterized by multiple congenital anomalies and associated with mutations in CREBBP (70%) and EP300 (5–10%). Previous reports have suggested an increased incidence of benign and possibly also malignant tumors, but the correlation remains unclear. Here we present a case of a patient with RTS and medulloblastoma. CLINICAL CASE: A 5-year-old male presented with increased intracranial pressure. An MRI revealed a 4.2 x 4.7 cm mass in the midline of cerebellum arising from the floor of 4th ventricle. The patient underwent a complete resection and pathology revealed medulloblastoma, classic histology. Staging established no disseminated disease. At diagnosis, a peculiar phenotype consisting in mild mental retardation, microcephaly, down-slanting palpebral fissures, broad nasal bridge, highly arched palate, mild micrognathia, screwdriver incisors and wide thumbs and toes was noted. Clinical genetics evaluation was consistent with RTS. Karyotype was performed and normal. Further genetics testing was not done. Treatment consisted in 8 cycles of chemotherapy and craniospinal radiation (2300 cGy to spine, 5500 cGy Total). At the end of treatment, there was no evidence of disease. He was under surveillance for 33 months free of disease, but relapsed with a supratentorial meningeal disease that ultimately resulted in death. CONCLUSION This report highlights the fact that pediatric medulloblastoma can be associated to RTS, in this case associated to classical histology and recurrent disease.

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Merk, Daniel J., Jasmin Ohli, Natalie D. Merk, Venu Thatikonda, Sorana Morrissy, Melanie Schoof, Susanne N. Schmid, et al. "Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma." Developmental Cell 44, no. 6 (March 2018): 709–24. http://dx.doi.org/10.1016/j.devcel.2018.02.012.

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Eser, Metin, Akif Ayaz, and Gözde Yeşil. "A case with rubinstein–taybi syndrome: a novel frameshift mutation in the crebbp gene." Turkish Journal of Pediatrics 59, no. 5 (2017): 601. http://dx.doi.org/10.24953/turkjped.2017.05.017.

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Rokunohe, Daiki, Hajime Nakano, Eijiro Akasaka, Yuka Toyomaki, and Daisuke Sawamura. "Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis." Journal of Dermatological Science 83, no. 3 (September 2016): 240–42. http://dx.doi.org/10.1016/j.jdermsci.2016.06.005.

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Menke, Leonie A., Thatjana Gardeitchik, Peter Hammond, Ketil R. Heimdal, Gunnar Houge, Sophia B. Hufnagel, Jianling Ji, et al. "Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome." American Journal of Medical Genetics Part A 176, no. 4 (February 20, 2018): 862–76. http://dx.doi.org/10.1002/ajmg.a.38626.

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Snehi, Sagarika, Anupriya Kaur, Chakshu Chaudhry, and Sushmita Kaushik. "Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in theCREBBPgene." BMJ Case Reports 16, no. 1 (January 2023): e251543. http://dx.doi.org/10.1136/bcr-2022-251543.

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Rubinstein-Taybi syndrome, also known as broad thumb-hallux syndrome, is a rare autosomal dominant genetic disorder. This multiorgan syndrome is linked to a pathogenic mutation in theCREBBPorEBP300genes.We present a patient with a hitherto unreported constellation of anterior segment abnormalities, including congenital glaucoma, congenital corneal keloid, cataract, and distinct facial and systemic features including a high-arched palate, low-set posteriorly rotated ears, Café-au-lait spots on the back, broad terminal phalanges of hands and feet, and bilateral cryptorchidism. The characteristic dysgenetic angle features and ultrasound biomicroscopic findings described in this case report show the occurrence of concomitant congenital keloid with glaucoma.Genetic testing revealed a heterozygous one-base pair duplication in exon 3 of theCREBBPgene (c.886dupC), a novel frameshift pathogenic mutation in theCREBBPgene that has not been previously reported in a clinical setting.

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Xu, Abai, and Tingting Chen. "Abstract 5102: Correlation analysis of CREBBP mutation with tumor mutation burden and effect of immune checkpoint therapy in bladder cancer." Cancer Research 82, no. 12_Supplement (June 15, 2022): 5102. http://dx.doi.org/10.1158/1538-7445.am2022-5102.

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Abstract Background: CREB-binding protein (CREBBP, hereafter CBP) encoded the protein having intrinsic histone acetyltransferase activity, which stabilized the additional protein interactions with the transcription complex. The mutation of CREBBP has been reported that caused Rubinstein-Taybi syndrome (RTS) and associated with acute myeloid leukemia, but not been studied in bladder cancer (BLCA). Immune checkpoint therapy (ICI) has significantly became one of the primary treatment of BLCA, and Tumor mutation burden (TMB) has been regarded as the most prevalent biomarker to predict immunotherapy. The CREBBP mutation status correlation with TMB and immune response remain unknown. Methods: Whole exome sequencing (WES) data and clinical data of 406 BLCA patients was obtained from the Cancer Genome Altas (TCGA). The mutation data of 206 FFPE tumor samples from Chinese BLCA patients were sequenced by targeted next-generation sequencing (NGS, 3DMed panel). NGS data and clinical data of 192 advanced BLCA patients treated with ICI were obtained from the MSK-IMPACT Clinical Sequencing cohort (MSKCC). The association between CREBBP mutation and TMB level in BLCA were explored. Survival analysis was determined by Kaplan-Meier (KM) analysis. Results: In total, The CREBBP mutation frequency was 16.25% (66/406) of BLCA patients in TCGA, 14.56% (30/206) in Chinese cohort and 13.54 (26/192). In Chinese cohort, the alteration frequency of NOTCH signal pathways affected was 48.54% (100/206), in which the highest frequency genes was CREBBP. The TMB level in CREBBP mutant group was higher than wild-type group both in Chinese group (Wilcoxon test, p = 0.001) and MSKCC cohort (Wilcoxon test, p < 0.001). The survival analysis were performed on patients from TCGA cohorts without treatment information and MSKCC BLCA patients treated with ICIs, separately. In TCGA cohort, there are not significantly difference between CREBBP mutation group (n=65) and wild-type group (n=340). While in MSKCC ICIs treatment cohort, the overall survival (OS) of CREBBP mutation group (n=26) were significantly longer than wild-type group (n=166) (median OS, mutation vs wild-type = NE vs 15 months; HR 0.468 [95% CI 0.26-0.84]; P = 0.0431). Conclusion: The CREBBP gene mutation was associated with higher TMB level. Clinical cohort analysis results suggested that CREBBP might be a predictive biomarker of immune checkpoint therapy but not a prognostic factor in BLCA. Citation Format: Abai Xu, Tingting Chen. Correlation analysis of CREBBP mutation with tumor mutation burden and effect of immune checkpoint therapy in bladder cancer [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2022; 2022 Apr 8-13. Philadelphia (PA): AACR; Cancer Res 2022;82(12_Suppl):Abstract nr 5102.

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Bartsch, Oliver, Stefanie Schmidt, Marion Richter, Susanne Morlot, Eva Seemanová, Glenis Wiebe, and Sasan Rasi. "DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein–Taybi syndrome (RSTS) and in another patient with incomplete RSTS." Human Genetics 117, no. 5 (July 14, 2005): 485–93. http://dx.doi.org/10.1007/s00439-005-1331-y.

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Yoo, Hee, Kyung Kim, In Kim, Seong-Hwan Rho, Jong-Eun Park, Ki Lee, Soon Kim, Byung Choi, and Namshin Kim. "Whole Exome Sequencing for a Patient with Rubinstein-Taybi Syndrome Reveals de Novo Variants besides an Overt CREBBP Mutation." International Journal of Molecular Sciences 16, no. 12 (March 11, 2015): 5697–713. http://dx.doi.org/10.3390/ijms16035697.

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Wang, L., Y. Deng, X. L. Zhou, J. J. Ma, and W. Li. "First case of Rubinstein-Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene." Clinical and Experimental Dermatology 44, no. 5 (January 6, 2019): e205-e208. http://dx.doi.org/10.1111/ced.13871.

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Bartsch, O. "Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP." Journal of Medical Genetics 39, no. 7 (July 1, 2002): 496–501. http://dx.doi.org/10.1136/jmg.39.7.496.

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Dahdouh, A., F. Bena, J. Prados, M. Taleb, and A. Malafosse. "Recherche de mutation rare du trouble bipolaire de type I : étude familiale en Algérie." European Psychiatry 29, S3 (November 2014): 541. http://dx.doi.org/10.1016/j.eurpsy.2014.09.320.

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De nombreuses études ont affirmé l’association significative des Copy Number Variants (CNVs) aux troubles psychotiques et de l’humeur, remettant en question l’hypothèse « maladie commune-variants communs » pour un modèle « maladie commune-variants rares » [1]. Par ailleurs, plusieurs études ont montré l’association de même CNVs à des pathologies différentes telles que l’autisme, le trouble bipolaire, le retard mental ou l’épilepsie, ce qui suggère un effet pléiotropique de ces mutations qui pourrait conduire à reconsidérer la nosologie actuelle. Enfin, certains de ces CNVs apparaîtraient de novo, mais il existe peu d’études familiales, et aucune effectuée sur des pedigrees étendus pour préciser les relations génotype-phénotype au sein des familles [2]. Dans ce travail nous avons étudié une famille consanguine multi-générationnelle et multiplexe pour le phénotype de trouble bipolaire de type I et de schizophrénie ; identifiée dans la région de Tlemcen au nord ouest de l’Algérie. Une recherche pangénomique de CNVs utilisant le Kit 44 K Agilent Human Genome CGH Microarray, a été achevée pour quatre sujets dont deux atteints et deux sains. Cette analyse a permis de mettre en évidence la duplication 16p13.33 en position 3863532-3927262 (Hg19), qui présente un caractère de novo chez une patiente, car absente chez ses deux parents. La duplication de la région chromosomique 16p13.3 affectant le gène CREBBP dont la délétion et/ou la mutation est incriminée dans le syndrome de Rubinstein-Taybi est actuellement décrite dans une entité syndromique regroupant dysmorphie de la face, retard mental léger à moyen, croissance normale, arthrogrypose, anomalies orthopédiques des extrémités surtout des mains et des anomalies de développement cardiaque, génital et oculaire [3]. Ce CNV n’a jamais été décrit précédemment dans le phénotype de trouble bipolaire ; dans ce travail nous présentons une nouvelle description génotype-phénotype d’une dup16p13.33 de novo, dans le trouble bipolaire type I.

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Kamenarova, Kunka, Emil Simeonov, Reni Tzveova, Daniela Dacheva, Marin Penkov, Ivo Kremensky, Penka Perenovska, Vanio Mitev, and Radka Kaneva. "Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report." Human Pathology 47, no. 1 (January 2016): 144–49. http://dx.doi.org/10.1016/j.humpath.2015.09.004.

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Udaka, Toru, Hazuki Samejima, Rika Kosaki, Kenji Kurosawa, Nobuhiko Okamoto, Seiji Mizuno, Yoshio Makita, et al. "Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography." Congenital Anomalies 45, no. 4 (December 2005): 125–31. http://dx.doi.org/10.1111/j.1741-4520.2005.00081.x.

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Li, Chumei, and Marta Szybowska. "A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein-Taybi syndrome presenting with subtle dysmorphic features." American Journal of Medical Genetics Part A 152A, no. 11 (October 14, 2010): 2939–41. http://dx.doi.org/10.1002/ajmg.a.33693.

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van Belzen, Martine, Oliver Bartsch, Didier Lacombe, Dorien J. M. Peters, and Raoul C. M. Hennekam. "Rubinstein–Taybi syndrome (CREBBP, EP300)." European Journal of Human Genetics 19, no. 1 (July 28, 2010): 3. http://dx.doi.org/10.1038/ejhg.2010.124.

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Alari, Valentina, Silvia Russo, Davide Rovina, Maria Garzo, Milena Crippa, Luciano Calzari, Claudia Scalera, et al. "Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479*) and c.3474G>A, p.(Trp1158*) and missense c.4627G>T, p.(Asp1543Tyr) mutations." Stem Cell Research 40 (October 2019): 101553. http://dx.doi.org/10.1016/j.scr.2019.101553.

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Van Gils, Julien, Frederique Magdinier, Patricia Fergelot, and Didier Lacombe. "Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder." Genes 12, no. 7 (June 24, 2021): 968. http://dx.doi.org/10.3390/genes12070968.

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The Rubinstein-Taybi syndrome (RSTS) is a rare congenital developmental disorder characterized by a typical facial dysmorphism, distal limb abnormalities, intellectual disability, and many additional phenotypical features. It occurs at between 1/100,000 and 1/125,000 births. Two genes are currently known to cause RSTS, CREBBP and EP300, mutated in around 55% and 8% of clinically diagnosed cases, respectively. To date, 500 pathogenic variants have been reported for the CREBBP gene and 118 for EP300. These two genes encode paralogs acting as lysine acetyltransferase involved in transcriptional regulation and chromatin remodeling with a key role in neuronal plasticity and cognition. Because of the clinical heterogeneity of this syndrome ranging from the typical clinical diagnosis to features overlapping with other Mendelian disorders of the epigenetic machinery, phenotype/genotype correlations remain difficult to establish. In this context, the deciphering of the patho-physiological process underlying these diseases and the definition of a specific episignature will likely improve the diagnostic efficiency but also open novel therapeutic perspectives. This review summarizes the current clinical and molecular knowledge and highlights the epigenetic regulation of RSTS as a model of chromatinopathy.

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Roelfsema, Jeroen H., and Dorien J. M. Peters. "Rubinstein–Taybi syndrome: clinical and molecular overview." Expert Reviews in Molecular Medicine 9, no. 23 (August 2007): 1–16. http://dx.doi.org/10.1017/s1462399407000415.

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Rubinstein–Taybi syndrome is characterised by mental retardation, growth retardation and a particular dysmorphology. The syndrome is rare, with a frequency of approximately one affected individual in 100 000 newborns. Mutations in two genes –CREBBPandEP300– have been identified to cause the syndrome. These two genes show strong homology and encode histone acetyltransferases (HATs), which are transcriptional co-activators involved in many signalling pathways. Loss of HAT activity is sufficient to account for the phenomena seen in Rubinstein–Taybi patients. Although some mutations found inCREBBPare translocations, inversions and large deletions, most are point mutations or small deletions and insertions. Mutations inEP300are comparatively rare. Extensive screening of patients has revealed mutations inCREBBPandEP300in around 50% of cases. The cause of the syndrome in the remaining patients remains to be identified, but other genes could also be involved. Here, we describe the clinical presentation of Rubinstein–Taybi syndrome, review the mutation spectrum and discuss the current understanding of causative molecular mechanisms.

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Stef, Marianne, Delphine Simon, Béatrice Mardirossian, Marie-Ange Delrue, Ingrid Burgelin, Christophe Hubert, Michèle Marche, et al. "Spectrum of CREBBP gene dosage anomalies in Rubinstein–Taybi Syndrome patients." European Journal of Human Genetics 15, no. 8 (May 2, 2007): 843–47. http://dx.doi.org/10.1038/sj.ejhg.5201847.

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31

Welters, Alena, Ranna El-Khairi, Antonia Dastamani, Nadine Bachmann, Carsten Bergmann, Clare Gilbert, Emma Clement, et al. "Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein–Taybi syndrome." European Journal of Endocrinology 181, no. 2 (August 2019): 121–28. http://dx.doi.org/10.1530/eje-19-0119.

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Objective Genetic aetiology remains unknown in up to 50% of patients with persistent hyperinsulinaemic hypoglycaemia (HH). Several syndromes are associated with HH. We report Rubinstein–Taybi syndrome (RSTS) as one of the possible causes of persistent HH. Early diagnosis and treatment of HH is crucial to prevent hypoglycaemic brain injury. Design Four RSTS patients with HH were retrospectively analysed. Methods Genetic investigations included next-generation sequencing-based gene panels and exome sequencing. Clinical characteristics, metabolic profile during hypoglycaemia and treatment were reviewed. Results Disease-related EP300 or CREBBP variants were found in all patients, no pathogenic variants were found in a panel of genes associated with non-syndromic HH. Two patients had classic manifestations of RSTS, three had choanal atresia or stenosis. Diagnosis of HH varied from 1 day to 18 months of age. One patient was unresponsive to treatment with diazoxide, octreotide and nifedipine, but responded to sirolimus. All required gastrostomy feeding. Conclusions Given the rarity of RSTS (1:125 000) and HH (1:50 000), our observations indicate an association between these two conditions. We therefore recommend that clinicians should be vigilant in screening for HH in symptomatic infants with RSTS. In children with an apparent syndromic form of HH, RSTS should be considered in the differential diagnosis.

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Naimi, D. R., J. Munoz, J. Rubinstein, and R. W. Hostoffer. "Immune Defects in Rubinstein-Taybi Syndrome With and Without Deletion of CREBBP." Journal of Allergy and Clinical Immunology 117, no. 2 (February 2006): S109. http://dx.doi.org/10.1016/j.jaci.2005.12.438.

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Olson, David P., and Ronald J. Koenig. "Thyroid Function in Rubinstein-Taybi Syndrome*." Journal of Clinical Endocrinology & Metabolism 82, no. 10 (October 1, 1997): 3264–66. http://dx.doi.org/10.1210/jcem.82.10.4273.

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Abstract Rubinstein-Taybi syndrome (RTS) is a genetic syndrome characterized by broad thumbs and halluces, growth retardation, mental retardation, and craniofacial abnormalities. This condition recently was found to be caused by mutations in the gene encoding cAMP response element-binding protein (CREB)-binding protein. As CREB-binding protein has been shown to be a critical coactivator for thyroid hormone receptors, it is plausible that RTS would be characterized by thyroid hormone resistance. In fact, features of RTS, such as mental retardation and short stature, are consistent with thyroid hormone deficiency or resistance. To assess the function of the thyroid axis in RTS, free T4 and TSH were measured in 12 subjects with this syndrome. The free T4 level was normal in all 12 (mean ± sd, 0.97 ± 0.20 ng/dL; normal range, 0.73–1.79), as was the TSH level (2.24 ± 0.87 μU/mL; normal range, 0.3–6.5). Thus, overt thyroid hormone resistance does not appear to be a typical feature of RTS.

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Yumul, Rhea Camille R., and Mary Anne D. Chiong. "Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant." Case Reports in Genetics 2022 (May 21, 2022): 1–5. http://dx.doi.org/10.1155/2022/3388879.

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Rubinstein–Taybi syndrome (RSTS) is a rare genetic disorder characterized by dysmorphic facial features, broad thumbs and halluces, intellectual disability, and postnatal growth retardation. This report presents a male infant with microcephaly and characteristic facial features, namely, low anterior hairline, hirsutism, thin upper lip and micrognathia, broad thumbs and first toes, cryptorchidism, recurrent pneumonia, developmental delay, and growth retardation. Genetic testing showed a novel pathogenic variant in the CREBBP gene which is consistent with the clinical diagnosis of RSTS.

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de Vries, Tamar I., Glen R Monroe, Martine J. van Belzen, Christian A. van der Lans, Sanne MC Savelberg, William G. Newman, Gijs van Haaften, Rutger A. Nievelstein, and Mieke M. van Haelst. "Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi and Filippi syndromes." European Journal of Human Genetics 24, no. 9 (March 9, 2016): 1363–66. http://dx.doi.org/10.1038/ejhg.2016.14.

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Musabak, Ugur, Serdar Ceylaner, Tuba Erdogan, and Ebru Sebnem Ayva. "A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features." Case Reports in Immunology 2022 (July 4, 2022): 1–5. http://dx.doi.org/10.1155/2022/4970973.

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Hypogammaglobulinemias, based on inborn errors of immunity, are primary immunodeficiencies (PIDs) that can also be diagnosed for the first time in adulthood. Common variable immunodeficiency (CVID) is a multifactorial disease often symptomatic due to antibody deficiency. In addition, some PIDs are classified into the category of immunodeficiencies with syndromic features due to their accompanying clinical findings unrelated to immunity. In this article, a patient with CVID who was diagnosed in adulthood and who was revealed to have a mutation specific to Rubinstein–Taybi syndrome and clinical features reminiscent of this syndrome only after molecular tests was presented.

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Yu, Pui Tak, Ho‐Ming Luk, and Ivan F. M. Lo. "Rubinstein‐Taybi syndrome in Chinese population with four novel mutations." American Journal of Medical Genetics Part A 185, no. 1 (October 16, 2020): 267–73. http://dx.doi.org/10.1002/ajmg.a.61922.

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Gucev, Zoran S., Velibor B. Tasic, Aleksandar Saveski, Momir H. Polenakovic, Nevenka B. Laban, Ulrich Zechner, and Oliver Bartsch. "Tissue-specific mosaicism in a patient with Rubinstein–Taybi syndrome and CREBBP exon 1 duplication." Clinical Dysmorphology 28, no. 3 (July 2019): 140–42. http://dx.doi.org/10.1097/mcd.0000000000000268.

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39

Ozdemir, Yesim, Murat Cag, Munis Dundar, Aslihan Kiraz, and Cihan Meral. "Two Pathogenic Variants in Two Ultra Rare Syndromes; Smith- Kingsmore Syndrome and Rubinstein Taybi Syndrome Type2." International Journal of Innovative Research in Medical Science 7, no. 02 (February 26, 2022): 100–106. http://dx.doi.org/10.23958/ijirms/vol07-i02/1355.

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Smith-Kingsmore Syndrome is a very rare autosomal dominant intellectual disability syndrome characterized by macrocephaly, seizures, umbilical hernia, and facial dysmorphic features. The prevalence of SKS, with 27 patients reported so far, is still unknown. Rubinstein Taybi Syndrome Type 2 (RSTS2) is another rare genetic condition that prevalance is <1/1.000.000. It is characterized by mental and developmental retardation, dysmorphic findings. We present a seven-year-old girl who was diagnosed with SKS and RSTS2 based on identification of a novel de novo pathogenic variant in the MTOR and EP300 genes (MIM #616638 and #613684) by Whole Exome Sequencing and supported by some characteristic clinical features. In our patient, pathogenic mutations belonging to two different ultra-rare syndromes were found. However, the patient had clinical findings of only Smith Kingmore Syndrome among the syndromes. Although he had a pathogenic mutation, she did not have the clinical findings of Rubinstein Taybi Syndrome. This the first case presenting two different mutation of these two ultra-rare syndromes.

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Balci, Sevim, Mehmet Ali Ergün, Stanislav Lechno, and Oliver Bartsch. "Rubinstein-Taybi syndrome in first cousins with different de novo mutations." American Journal of Medical Genetics Part A 152A, no. 4 (April 2010): 1036–38. http://dx.doi.org/10.1002/ajmg.a.33259.

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41

Coupry, Isabelle, Laurence Monnet, Azza Abd El Moneim Attia, Laurence Taine, Didier Lacombe, and Beno�t Arveiler. "Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR." Human Mutation 23, no. 3 (2004): 278–84. http://dx.doi.org/10.1002/humu.20001.

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42

Rusconi, Daniela, Gloria Negri, Patrizia Colapietro, Chiara Picinelli, Donatella Milani, Silvia Spena, Cinzia Magnani, et al. "Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire." Human Genetics 134, no. 6 (March 25, 2015): 613–26. http://dx.doi.org/10.1007/s00439-015-1542-9.

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43

Petrif, Fred, Rachel H. Giles, Hans G. Dauwerse, Jasper J. Saris, Raoul C. M. Hennekam, Mitsuo Masuno, Niels Tommerup, et al. "Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP." Nature 376, no. 6538 (July 1995): 348–51. http://dx.doi.org/10.1038/376348a0.

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Alari, Valentina, Silvia Russo, Benedetta Terragni, Paola Francesca Ajmone, Alessandra Sironi, Ilaria Catusi, Luciano Calzari, et al. "iPSC-derived neurons of CREBBP - and EP300 -mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability." Stem Cell Research 30 (July 2018): 130–40. http://dx.doi.org/10.1016/j.scr.2018.05.019.

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45

Isidor, B., G. Podevin, C. Camby, J. F. Mosnier, A. Chauty, J. M. Lyet, P. Fergelot, et al. "Rubinstein-Taybi syndrome and Hirschsprung disease in a patient harboring an intragenic deletion of the CREBBP gene." American Journal of Medical Genetics Part A 152A, no. 7 (June 25, 2010): 1847–48. http://dx.doi.org/10.1002/ajmg.a.33480.

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46

Kalkhoven, E. "Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome." Human Molecular Genetics 12, no. 4 (February 15, 2003): 441–50. http://dx.doi.org/10.1093/hmg/ddg039.

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Zimmermann, Nicole, Ana Maria Bravo Ferrer Acosta, Jürgen Kohlhase, and Oliver Bartsch. "Confirmation of EP300 gene mutations as a rare cause of Rubinstein–Taybi syndrome." European Journal of Human Genetics 15, no. 8 (February 14, 2007): 837–42. http://dx.doi.org/10.1038/sj.ejhg.5201791.

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48

Udaka, Toru, Kenji Kurosawa, Kosuke Izumi, Shinobu Yoshida, Masato Tsukahara, Nobuhiko Okamoto, Chiharu Torii, et al. "Screening for Partial Deletions in the CREBBP Gene in Rubinstein–Taybi Syndrome Patients Using Multiplex PCR/Liquid Chromatography." Genetic Testing 10, no. 4 (January 2006): 265–71. http://dx.doi.org/10.1089/gte.2006.10.265.

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Tsai, Anne Chun-Hui, Cherilyn J Dossett, Carol S. Walton, Andrea E Cramer, Patti A. Eng, Beata A. Nowakowska, Amber N. Pursley, Pawel Stankiewicz, Joanna Wiszniewska, and Sau Wai Cheung. "Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein–Taybi syndrome detected by aCGH." European Journal of Human Genetics 19, no. 1 (August 18, 2010): 43–49. http://dx.doi.org/10.1038/ejhg.2010.121.

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Gervasini, Cristina, Paola Castronovo, Angela Bentivegna, Federica Mottadelli, Francesca Faravelli, Maria Luisa Giovannucci-Uzielli, Alice Pessagno, et al. "High frequency of mosaic CREBBP deletions in Rubinstein–Taybi syndrome patients and mapping of somatic and germ-line breakpoints." Genomics 90, no. 5 (November 2007): 567–73. http://dx.doi.org/10.1016/j.ygeno.2007.07.012.

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