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Littérature scientifique sur le sujet « Rubinstein–Taybi syndrome, CREBBP mutations »

Auteur : Grafiati

Publié le 9 mars 2023

Mis à jour le 10 mars 2023

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Articles de revues sur le sujet "Rubinstein–Taybi syndrome, CREBBP mutations"

Chafai Elalaoui, Siham, Wiam Smaili, Julien Van-Gils, Patricia Fergelot, Ilham Ratbi, Mariam Tajir, Benoit Arveiler, Didier Lacombe et Abdelaziz Sefiani. « Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome ». African Health Sciences 21, n^o 2 (2 août 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 et D. Rao. « Hepatoblastoma With Rubinstein-Taybi Syndrome : A Rare Association ». American Journal of Clinical Pathology 154, Supplement_1 (octobre 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 et 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 (9 janvier 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. et Поляков, А.В. « Molecular-genetic analysis of Rubinstein-Taybi syndrome in Russia ». Nauchno-prakticheskii zhurnal «Medicinskaia genetika, n^o 9 (30 septembre 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, n^o 3 (11 janvier 2019) : 420–26. http://dx.doi.org/10.1111/cge.13493.

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Sharma, Neeti, Avinash M. Mali et Sharmila A. Bapat. « Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome ». Journal of Biosciences 35, n^o 2 (29 avril 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 et Cristina Becheanu. « Menke–Hennekam Syndrome : A Literature Review and a New Case Report ». Children 9, n^o 5 (22 mai 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, n^o 1 (8 juillet 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, n^o 3 (29 août 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, n^o 11 (28 mai 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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Thèses sur le sujet "Rubinstein–Taybi syndrome, CREBBP mutations"

BENTIVEGNA, ANGELA. « Base molecolare della sindrome di Chromatin remodelling Rubinstein-Taybi : un sistema modello per lo studio dei deficit funzionali di acetilazione istonica ». Doctoral thesis, Università degli studi di Milano, 2008. http://hdl.handle.net/10281/12823.

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Rubinstein–Taybi syndrome (RSTS) is a rare malformation disorder caused by mutations in the closely related CREBBP and EP300 genes, accounting respectively for up to 60 and 3% of cases. About 10% of CREBBP mutations are whole gene deletions often extending into flanking regions. Using FISH and microsatellite analyses as a first step in the CREBBP mutation screening of 63 Italian RSTS patients (pts), 6 deletions were identified, 3 of which were in a mosaic condition that has not been previously reported in RSTS. The clinical presentation was typical in all cases, but more severe in the three pts carrying constitutional deletions, raising a question about the possible underdiagnosis of a few cases of mild RSTS. The use of region-specific BAC clones and small CREBBP probes allowed to assess the extent of all of the deletions by mapping their endpoints to genomic intervals of 5–10 kb. Four of five intragenic breakpoints cluster at the 5' end of CREBBP, where there is a peak of breakpoints underlying rearrangements in RSTS pts and tumours. The search for genomic motifs did not reveal any low-copy repeats (LCRs) or any greater density of repetitive sequences. The FISH analysis extended to the EP300 genomic region did not reveal any deletions. Searching for mutations of CREBBP gene in 56 patients revealed 23 different mutations. In addition, one deletion and two amplifications were identified by a-CGH in 20 RSTS pts.

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Torres, Leuridan Cavalcante. « Avaliação da imunocompetência de portadores da síndrome de Rubinstein-taybi ». Universidade de São Paulo, 2008. http://www.teses.usp.br/teses/disponiveis/42/42133/tde-01092008-192345/.

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A síndrome de Rubinstein-Taybi (RTS, OMIM 180849) é uma doença autossômica dominante caracterizada por dismorfismos craniofaciais típicos, polegares e háluces alargados, infecções respiratórias recidivantes, retardo mental e de crescimento. RTS está associada com mutação no gene CREBBP. Na avaliação da imunocompetência de 17 portadores de RTS, observaram-se algumas alterações na resposta imune inata e adaptativa: leucocitose persistente, neutrófilos com desgranulopoiese, elevada concentração sérica de IgM e IgG1, produção normal de anticorpos contra antígenos protéicos e anti-polissacarídeos, elevados valores absolutos de células B totais, B \"naive\", B de memória, subpopulação B1 e de linfócitos B com IgM de membrana, e elevado percentual de apoptose de linfócitos B. DTH negativo para três antígenos e baixa resposta linfoproliferativa para antígenos protéicos. Diante do exposto, concluímos que os pacientes RTS apresentam alterações em vários mecanismos da resposta imune e principalmente, na imunidade humoral. Portanto, com este trabalho foi possível identificar as principais alterações imunológicas destes pacientes, e com isso, caracterizar quais os defeitos da resposta imune que pode estar associada com gene CREBBP.
Rubinstein-Taybi syndrome (RTS, OMIM 180849) is a dominant Mendelian disorder characterized by craniofacial dysmorphisms, broad thumbs and toes, mental retardation and growth and recurrent respiratory infections. RTS is classically associated with CREBBP gene mutations, but recently, p300 gene mutations were reported in three individuals. In imunonocompetence investigation of a group of 17 patient of the RTS, we found that the patients really show alterations in more than one arm of the immune response. The main alterations were found in: a) innate immunity, patients have defects in the distribution of the granules citoplasmatic and partial absence of F-actin filament part of its polymorphonuclear cells. In addition, some patients had decreased phagocytic activity, b) humoral immunity: elevated serum IgM antibodies and IgG1 subclass, normal production of antibodies for protein antigens and antipolysaccharide, high absolute values of B cell total, B \"naive\", B memory, subpopulation B1 and B lymphocytes with the membrane IgM, and high percentage of apoptosis of B lymphocytes; c) cellular immunity: delayed hypersensitivity skin tests negative for three antigens and low lymphoproliferative response to protein antigens. Values reduced percentage of CD45RA+ , CD45RO+ T cells and high doublepositive CD45RA+/CD45RO +) T cell. Ahead of the severe recurrent respiratory infections that affect the patients with RTS, and of the evaluation of immunocompetence of these patients, we find that they have several alterations in mechanisms of immune response and mainly in humoral immunity. Therefore, with this study was to identify the major immunological alterations of these patients, and with this, which characterize the main defects of the immune response of the patients RTS that can is associated with gene CREBBP.

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Chapitres de livres sur le sujet "Rubinstein–Taybi syndrome, CREBBP mutations"

Petrij, Fred, et Dorien J. M. Peters. « CBP (CREBBP), the Rubinstein-Taybi Syndrome, and the 16p13.3 Duplication Syndrome ». Dans Epstein's Inborn Errors of Development, 947–56. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199934522.003.0141.

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