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Journal articles on the topic 'LZTR1'

Author: Grafiati

Published: 14 March 2023

Last updated: 31 July 2025

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1

Steklov, M., S. Pandolfi, M. F. Baietti, et al. "Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination." Science 362, no. 6419 (2018): 1177–82. http://dx.doi.org/10.1126/science.aap7607.

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The leucine zipper–like transcriptional regulator 1 (LZTR1) protein, an adaptor for cullin 3 (CUL3) ubiquitin ligase complex, is implicated in human disease, yet its mechanism of action remains unknown. We found that Lztr1 haploinsufficiency in mice recapitulates Noonan syndrome phenotypes, whereas LZTR1 loss in Schwann cells drives dedifferentiation and proliferation. By trapping LZTR1 complexes from intact mammalian cells, we identified the guanosine triphosphatase RAS as a substrate for the LZTR1-CUL3 complex. Ubiquitome analysis showed that loss of Lztr1 abrogated Ras ubiquitination at lys

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2

Ko, Aram, Mohammad Hasanain, Young Taek Oh, et al. "CSIG-01. EGFR AND AXL RECEPTOR TYROSINE KINASES DRIVE ONCOGENESIS BY LZTR1 MUTATION." Neuro-Oncology 24, Supplement_7 (2022): vii38. http://dx.doi.org/10.1093/neuonc/noac209.150.

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Abstract LZTR1, the substrate-specific adaptor of a CUL3-dependent ubiquitin ligase is among the most frequently mutated ubiquitin ligase coding gene in syndromic and sporadic human cancers including glioblastoma multiforme, in which approximately 27% of cases harbor inactivating mutations and copy number loss. However, both the identity of the protein substrates targeted by LZTR1-mediated ubiquitylation and the biological contexts regulated by specific LZTR1-substrate(s) interactions remain uncertain. Here, we combined biochemical and genetic studies to identify LZTR1 substrates and interroga

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Chen, Sisi, Rahul S. Vedula, Pau Castel, et al. "Impaired RAS Proteolysis Drives Clonal Hematopoietic Transformation." Blood 138, Supplement 1 (2021): 356. http://dx.doi.org/10.1182/blood-2021-147026.

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Abstract Recently, the protein LZTR1 (leucine zipper-like transcriptional regulator 1) was discovered as an adaptor for a cullin 3 complex responsible for ubiquitin-mediated degradation of RAS proteins. While these data provided a novel mechanism for RAS protein regulation, there is considerable controversy as to which RAS paralogs are physiologic substrates of LZTR1. In parallel, dysregulated LZTR1 expression via aberrant splicing and mutations in both LZTR1 as well as the RAS GTPase and LZTR1 substrate RIT1 were identified in patients with clonal hematopoietic disorders. However, the effects

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Song, Xuemin, Dongming Luo, Qian Zhong, et al. "Effect of Targeting Leucine-Zipper-Like Transcription Regulator 1 Gene on Colon Cancer Cells." Journal of Biomaterials and Tissue Engineering 11, no. 8 (2021): 1588–94. http://dx.doi.org/10.1166/jbt.2021.2727.

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LZTR1 is associated with several diseases, including liver cancer, childhood cancer, and schwannomas. However, LZTR1’s role in colon cancer and its mechanism of action have not been reported. The colon cancer tissues and adjacent tissues were collected to measure the expression of LZTR1 by Real time PCR. Colon cancer SW620 cell lines were cultured and randomly divided into control group and LZTR1 group followed by analysis of LZTR1 expression by real time PCR, cell proliferation by MTT assay, Caspase3 activity, Bcl-2 and Bax level by Real time PCR, cell invasion by Transwell chamber; NF-κB/VEG

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Zhou, Bo, Xinyu Ying, Yingcong Chen, and Xingchen Cai. "A Comprehensive Pan-Cancer Analysis of the Tumorigenic Effect of Leucine-Zipper-Like Transcription Regulator (LZTR1) in Human Cancer." Oxidative Medicine and Cellular Longevity 2022 (October 17, 2022): 1–19. http://dx.doi.org/10.1155/2022/2663748.

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The elucidation of the action site, mechanism of Leucine-Zipper-like Transcription Regulator-1 (LZTR1) and its relationship with RAS-MAPK signaling pathway attracts more and more scholars to focus on the researches of LZTR1 and its role in tumorigenesis. However, there was no pan-cancer analysis between LZTR1 and human tumors reported before. Therefore, we are the first to investigate the potential oncogenic roles of LZTR1 across all tumor types based on the datasets of TCGA (The Cancer Genome Atlas) and GEO (Gene Expression Omnibus). LZTR1 plays a double-edged role in tumor development and pr

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Ivanisevic, Tonci, Greetje Vande Velde, Peihua Zhao, Wout Magits, Raj N. Sewduth, and Anna A. Sablina. "Abstract 3941: Wild-type KRAS dosage in mutant KRAS lung cancer: Implications for tumorigenesis and therapeutic response." Cancer Research 84, no. 6_Supplement (2024): 3941. http://dx.doi.org/10.1158/1538-7445.am2024-3941.

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Abstract Lung adenocarcinomas (LUAD) are frequently driven by activating mutations in the Kirsten rat sarcoma viral oncogene homolog (KRAS). Previous studies have suggested that wild-type (wt)-RAS signaling may modulate cancer progression and drug resistance in these tumors. However, the interplay between oncogenic KRAS and wt-RAS-like GTPases in lung cancer biology and treatment remains debated. Here, we investigated the impact of increased wt-KRAS dosage in LUAD harboring mutant KRAS on lung cancer phenotypes and response to anti-KRAS therapies. Increased wt-KRAS dosage occurs in LUAD due to

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7

Inoue, Daichi, Jacob T. Polaski, Justin Taylor, et al. "ZRSR2 Mutation Induced Minor Intron Retention Drives MDS and Diverse Cancer Predisposition Via Aberrant Splicing of LZTR1." Blood 136, Supplement 1 (2020): 10–11. http://dx.doi.org/10.1182/blood-2020-136445.

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Mutations in RNA splicing factors are amongst the most common genetic alterations in myeloid malignancies. Mutations in the splicing factors SF3B1, SRSF2, and U2AF1 occur as heterozygous, missense mutations and have been shown to confer a change-of-function. In contrast, the X chromosome encoded ZRSR2 is enriched in nonsense/frameshift mutations in males, consistent with loss of function. To date however, we do not understand the basis for enrichment of ZRSR2 mutations in leukemia. Moreover, ZRSR2 is the only one of these factors that primarily functions in the minor spliceosome. While most in

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8

Yunga Tigre, Joseph, David J. Levi, Victor M. Lu, et al. "A novel leucine zipper-like transcriptional regulator 1 variant identified in a pair of siblings with familial schwannomatosis." Surgical Neurology International 15 (August 16, 2024): 285. http://dx.doi.org/10.25259/sni_193_2024.

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Background: Schwannomatosis is a rare genetic disorder marked by the emergence or predisposition to developing multiple schwannomas. Patients typically present with chronic pain or a mass in the second or third decade of life. Schwannomatosis is characterized by its associated gene, or if the specific gene is not known, then a descriptor is used. Here, we report a new Leucine zipper-like transcriptional regulator 1 (LZTR1) pathogenic variant identified in a pair of siblings with familial LZTR1-related schwannomatosis. Case Descriptions: A 35-year-old male presented for evaluation of the left l

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9

Ivanisevic, Tonci. "Abstract A019: The role of KRAS ubiquitination in lung cancer heterogeneity." Molecular Cancer Research 21, no. 5_Supplement (2023): A019. http://dx.doi.org/10.1158/1557-3125.ras23-a019.

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Abstract Lung cancer is the most frequent cancer with an aggressive clinical course and high mortality rates. About 30% of non-small lung cancer is driven by activating mutations in KRAS (Kirsten rat sarcoma virus). KRAS signaling is tightly controlled through a series of post-transcriptional mechanisms, whereas dysregulation of KRAS activity is translated into heterogeneous clinical behavior. We, and others, have recently implicated leucine zipper-like transcriptional regulator 1 (LZTR1), an adaptor of the CUL3-containing E3 ligase complex, in the control of RAS ubiquitination. Heterozygous l

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10

Uliana, Vera, Enrico Ambrosini, Antonietta Taiani, et al. "Phenotypic Expansion of Autosomal Dominant LZTR1-Related Disorders with Special Emphasis on Adult-Onset Features." Genes 15, no. 7 (2024): 916. http://dx.doi.org/10.3390/genes15070916.

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Leucine zipper-like transcription regulator 1 (LZTR1) acts as a negative factor that suppresses RAS function and MAPK signaling; mutations in this protein may dysregulate RAS ubiquitination and lead to impaired degradation of RAS superfamily proteins. Germline LZTR1 variants are reported in Noonan syndrome, either autosomal dominant or autosomal recessive, and in susceptibility to schwannomatosis. This article explores the genetic and phenotypic diversity of the autosomal dominant LZTR1-related disorders, compiling a cohort of previously published patients (51 with the Noonan phenotype and 123

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11

Brozou, Triantafyllia, Arndt Borkhardt, Ute Fischer, et al. "High-Hyperdiploid Acute Lymphoblastic Leukemia in Children with LZTR1 Germline Variants." Blood 142, Supplement 1 (2023): 1408. http://dx.doi.org/10.1182/blood-2023-174500.

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Introduction Firstly described in 1967, hyperdiploidy (HD) is the most frequent genetic abnormality in B-cell- precursor acute lymphoblastic leukemia (BCP-ALL) in children, comprising about 25% of all cases. A not yet exactly defined proportion have predisposing pathogenic germline variants in DNA repair pathway genes, chromatin remodeling factors, transcription factors regulating B-cell development (particularly ETV6) or receptor tyrosine kinases pathway genes like RAS/RAF. Among the latter, mutations have mostly been described in PTPN11 and SOS1, but not yet in other components of this centr

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12

Smith, Miriam J., Naomi L. Bowers, Michael Bulman, et al. "Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis." Neurology 88, no. 1 (2016): 87–92. http://dx.doi.org/10.1212/wnl.0000000000003418.

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Objective:To determine the specificity of the current clinical diagnostic criteria for neurofibromatosis type 2 (NF2) relative to the requirement for unilateral vestibular schwannoma (VS) and at least 2 other NF2-related tumors.Methods:We interrogated our Manchester NF2 database, which contained 205 individuals meeting NF2 criteria who initially presented with a unilateral VS. Of these, 83 (40.7%) went on to develop a contralateral VS. We concentrated our genetic analysis on a group of 70 who initially fulfilled NF2 criteria with a unilateral vestibular schwannoma and at least 2 additional non

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13

Bigenzahn, Johannes W., Giovanna M. Collu, Felix Kartnig, et al. "LZTR1 is a regulator of RAS ubiquitination and signaling." Science 362, no. 6419 (2018): 1171–77. http://dx.doi.org/10.1126/science.aap8210.

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In genetic screens aimed at understanding drug resistance mechanisms in chronic myeloid leukemia cells, inactivation of the cullin 3 adapter protein-encoding leucine zipper-like transcription regulator 1 (LZTR1) gene led to enhanced mitogen-activated protein kinase (MAPK) pathway activity and reduced sensitivity to tyrosine kinase inhibitors. Knockdown of theDrosophila LZTR1orthologCG3711resulted in a Ras-dependent gain-of-function phenotype. Endogenous human LZTR1 associates with the main RAS isoforms. Inactivation ofLZTR1led to decreased ubiquitination and enhanced plasma membrane localizati

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14

Damianou, Andreas, Zhu Liang, Frederik Lassen, et al. "Oncogenic mutations of KRAS modulate its turnover by the CUL3/LZTR1 E3 ligase complex." Life Science Alliance 7, no. 5 (2024): e202302245. http://dx.doi.org/10.26508/lsa.202302245.

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KRAS is a proto-oncogene encoding a small GTPase. Mutations contribute to ∼30% of human solid tumours, including lung adenocarcinoma, pancreatic, and colorectal carcinomas. Most KRAS activating mutations interfere with GTP hydrolysis, essential for its role as a molecular switch, leading to alterations in their molecular environment and oncogenic signalling. However, the precise signalling cascades these mutations affect are poorly understood. Here, APEX2 proximity labelling was used to profile the molecular environment of WT, G12D, G13D, and Q61H-activating KRAS mutants under starvation and s

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15

Mansouri, Sheila, Suganth Suppiah, Yasin Mamatjan, et al. "EPCO-04. GENOMIC AND EPIGENOMIC HALLMARKS OF SCHWANNOMATOSIS SCHWANNOMAS." Neuro-Oncology 22, Supplement_2 (2020): ii69—ii70. http://dx.doi.org/10.1093/neuonc/noaa215.283.

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Abstract Schwannomatosis (SWNTS) is a genetic cancer predisposition syndrome that manifests as multiple and often, painful neuronal tumors called schwannomas (SWNs). Very little is known about the epigenomic and genomic alterations in SWNTS related SWNs (SWNTS-SWNs) other than germline mutations in SMARCB1 and LZTR1 plus somatic mutations in NF2 and loss of heterozygosity in chromosome 22q. Herein, we have comprehensively established the specific molecular signatures of SWNTS-SWNs. We found that tumor anatomic location was associated with pain and distinct DNA methylation and transcriptional s

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16

Ngọc, Cấn Thị Bích, та Vũ Chí Dũng. "Hội chứng Noonan do đột biến đồng hợp tử lặn của gen LZTR1 lần đầu được chẩn đoán và điều trị tại Bệnh viện Nhi Trung ương". Tạp chí Nghiên cứu Y học 164, № 3 (2023): 73–78. http://dx.doi.org/10.52852/tcncyh.v164i3.1435.

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Hội chứng Noonan (NS) là hội chứng đa dị tật bẩm sinh di truyền do đột biến trội của các gen PTPN11, SOS1, SOS2, RAF1, KRAS, NRAS, BRAF, SHOC2, CBL, RIT1 và LZTR1. Điều trị bằng hormone tăng trưởng (GH) có hiệu quả cải thiện chiều cao ở trẻ NS. Chúng tôi mô tả biểu hiện lâm sàng, đột biến gen và kết quả lên tăng trưởng khi điều trị bằng GH ở trẻ mắc NS do đột biến đồng hợp tử lặn của gen LZTR1 tại Bệnh viện Nhi Trung ương. Ca bệnh là trẻ nữ 30 tháng tuổi: chiều cao 82,5cm (< -2SD), 13kg, mặt bất thường: trán dô, sống mũi tẹt, mũi hếch, hai mắt xa nhau, răng sún nhiều, men răng đen xỉn rồi c

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17

Castel, Pau, Alice Cheng, Antonio Cuevas-Navarro, et al. "RIT1 oncoproteins escape LZTR1-mediated proteolysis." Science 363, no. 6432 (2019): 1226–30. http://dx.doi.org/10.1126/science.aav1444.

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RIT1 oncoproteins have emerged as an etiologic factor in Noonan syndrome and cancer. Despite the resemblance of RIT1 to other members of the Ras small guanosine triphosphatases (GTPases), mutations affecting RIT1 are not found in the classic hotspots but rather in a region near the switch II domain of the protein. We used an isogenic germline knock-in mouse model to study the effects of RIT1 mutation at the organismal level, which resulted in a phenotype resembling Noonan syndrome. By mass spectrometry, we detected a RIT1 interactor, leucine zipper–like transcription regulator 1 (LZTR1), that

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18

Bianchessi, Donatella, Maria Cristina Ibba, Veronica Saletti, et al. "Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients." Genes 11, no. 6 (2020): 671. http://dx.doi.org/10.3390/genes11060671.

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Neurofibromatosis type 1 (NF1) displays overlapping phenotypes with other neurocutaneous diseases such as Legius Syndrome. Here, we present results obtained using a next generation sequencing (NGS) panel including NF1, NF2, SPRED1, SMARCB1, and LZTR1 genes on Ion Torrent. Together with NGS, the Multiplex Ligation-Dependent Probe Amplification Analysis (MLPA) method was performed to rule out large deletions/duplications in NF1 gene; we validated the MLPA/NGS approach using Sanger sequencing on DNA or RNA of both positive and negative samples. In our cohort, a pathogenic variant was found in 175

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Jacquinet, Adeline, Adeline Bonnard, Yline Capri, et al. "Oligo-astrocytoma in LZTR1-related Noonan syndrome." European Journal of Medical Genetics 63, no. 1 (2020): 103617. http://dx.doi.org/10.1016/j.ejmg.2019.01.007.

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Do, PT, R. Liu, M. Pomianowski, AM Miller, N. Gandhi, and P. Pomianowski. "80 LZTR1 haploinsufficiency: a cardiology case report." American Journal of the Medical Sciences 369 (February 2025): S54—S55. https://doi.org/10.1016/s0002-9629(25)00089-8.

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21

Umeki, Ikumi, Tetsuya Niihori, Taiki Abe, et al. "Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1–PPP1CB complexes." Human Genetics 138, no. 1 (2018): 21–35. http://dx.doi.org/10.1007/s00439-018-1951-7.

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Gandaeva, Leila A., Valentina G. Kaverina, Elena N. Basargina, Alexander A. Pushkov, and Kirill V. Savostyanov. "A rare case of Noonan syndrome associated with biallelic variants in the LZTR1." L.O. Badalyan Neurological Journal 4, no. 3 (2023): 120–29. http://dx.doi.org/10.46563/2686-8997-2023-4-3-120-129.

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Introduction. Noonan syndrome is a clinically and genetically heterogeneous disease with multiple organ involvement associated with mutations in the genes of the RAS/MAPK signalling pathway. Most patients with Noonan syndrom (up to 50–80%) have disorders of the cardiovascular system, presented by a wide range of congenital heart defects and/or cardiomyopathy, predominantly hypertrophic phenotype. Thanks to the introduction of high-throughput sequencing, knowledge of the genetic causes of Noonan syndrome has expanded significantly, so since 2014, the LZTR1 gene (OMIM 601247) has been included i

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23

Paganini, Irene, Vivian Y. Chang, Gabriele L. Capone, et al. "Expanding the mutational spectrum of LZTR1 in schwannomatosis." European Journal of Human Genetics 23, no. 7 (2014): 963–68. http://dx.doi.org/10.1038/ejhg.2014.220.

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Abe, Taiki, Ikumi Umeki, Shin-ichiro Kanno, Shin-ichi Inoue, Tetsuya Niihori, and Yoko Aoki. "LZTR1 facilitates polyubiquitination and degradation of RAS-GTPases." Cell Death & Differentiation 27, no. 3 (2019): 1023–35. http://dx.doi.org/10.1038/s41418-019-0395-5.

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Eoli, M. E., D. Bianchessi, M. Moscatelli, et al. "OS2.3 Relevance of Neurofibromatosistype 1 and schwannomotosis in extramedullary spine tumors." Neuro-Oncology 21, Supplement_3 (2019): iii8. http://dx.doi.org/10.1093/neuonc/noz126.023.

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Abstract BACKGROUND Extramedullary spine tumors represent two-thirds of all primary spine neoplasms. Approximately half of these are peripheral nerve sheath tumors, mainly neurofibromas and schwannomas and neurofibromatosis or schwannomatosis can be suspected. Given the rarity of this condition the clinical genetic and radiological features remains to be better define. The aim of this study was to characterize the clinical, radiologic presentation of patients with widespread spinal disease and to identify gene mutation. MATERIAL AND METHODS We selected patient with a at least: intradural extra

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Nogué, Clara, Anne-Sophie Chong, Elia Grau, et al. "Abstract 1549: The tumorigenesis model in DGCR8 associated schwannomatosis." Cancer Research 82, no. 12_Supplement (2022): 1549. http://dx.doi.org/10.1158/1538-7445.am2022-1549.

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Abstract Purpose: Schwannomatosis is an inherited disorder that affects Schwann cells from peripheral nerves. It is diagnosed when multiple schwannomas occur in the absence of bilateral vestibular schwannomas. The two main genes associated with this disorder are SMARCB1 and LZTR1 both on chromosome 22q (Chrm22q). Somatic inactivation of NF2, downstream of SMARCB1, is observed in most schwannomas. The accepted model of schwannomatosis involves multiple hits over three steps to inactivate LZTR1 or SMARCB1 together with NF2. Following this pattern, most of the LZTR1/SMARCB1-schwannomas acquire a

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Wei, Wei, Mitchell Geer, Xinyi Guo, Neville Sanjana, and Benjamin G. Neel. "Abstract 659: Mechanisms of resistance to SHP2 inhibition." Cancer Research 82, no. 12_Supplement (2022): 659. http://dx.doi.org/10.1158/1538-7445.am2022-659.

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Abstract SHP2 (PTPN11) is required for RAS activation, acting upstream of SOS1/2. Allosteric SHP2 inhibitors (SHP2is) stabilize auto-inhibition mediated by N-SH2/PTP interactions and prevent its activation by upstream stimuli. SHP2is impair the proliferation of oncogenic RTK- or cycling RAS mutant-expressing tumor cells and can overcome adaptive resistance to single agents targeting the RAS-MAPK-ERK pathway (e.g., EGFR, KRASG12C, BRAFV600E, MEK inhibitors). Multiple SHP2is are in clinical trials as single agents or in various combinations. As resistance to targeted therapy is universal, we sou

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Basenach, Elena, Alisa Förster, Peter Raab, et al. "INNV-06. TREATMENT RESPONSE TO BEVACIZUMAB OVER TWO YEARS IN A PATIENT WITH GENETICALLY PROVEN SOMATIC NEUROFIBROMATOSIS TYPE 2 MOSAICISM." Neuro-Oncology 21, Supplement_6 (2019): vi131. http://dx.doi.org/10.1093/neuonc/noz175.549.

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Abstract Neurofibromatosis type 2 (NF2) is a tumor predisposition syndrome characterized by the development of schwannomas, especially bilateral vestibular schwannomas (VS), and meningiomas. Heterozygous pathogenic variants in the NF2 gene are known to cause NF2, whereby somatic mosaicism is present in ~25% of simplex patients. In schwannomatosis, a disorder phenotypically similar to NF2, heterozygous SMARCB1 or LZTR1 variants may be causative. Recently, bevacizumab has shown efficiency as therapy for VS in some NF2 patients. We report on a thirty-three-year-old patient with bilateral VS, four

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Hanses, Ulrich, Mandy Kleinsorge, Lennart Roos, et al. "Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome–Associated Cardiomyopathy." Circulation 142, no. 11 (2020): 1059–76. http://dx.doi.org/10.1161/circulationaha.119.044794.

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Background: Noonan syndrome (NS) is a multisystemic developmental disorder characterized by common, clinically variable symptoms, such as typical facial dysmorphisms, short stature, developmental delay, intellectual disability as well as cardiac hypertrophy. The underlying mechanism is a gain-of-function of the RAS–mitogen-activated protein kinase signaling pathway. However, our understanding of the pathophysiological alterations and mechanisms, especially of the associated cardiomyopathy, remains limited and effective therapeutic options are lacking. Methods: Here, we present a family with tw

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Johnston, Jennifer J., Jasper J. van der Smagt, Jill A. Rosenfeld, et al. "Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants." Genetics in Medicine 20, no. 10 (2018): 1175–85. http://dx.doi.org/10.1038/gim.2017.249.

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Makarova, Elizaveta, Patricia Gordon, and Katie Hartman. "P242: Case series evaluating LZTR1 variant within one family." Genetics in Medicine Open 1, no. 1 (2023): 100270. http://dx.doi.org/10.1016/j.gimo.2023.100270.

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Song, Jiangwei, Busong Wang, Mingjie Zou, et al. "Mapping the Interactome of KRAS and Its G12C/D/V Mutants by Integrating TurboID Proximity Labeling with Quantitative Proteomics." Biology 14, no. 5 (2025): 477. https://doi.org/10.3390/biology14050477.

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KRAS mutations are major drivers of human cancers, yet how distinct mutations rewire protein interactions and metabolic pathways to promote tumorigenesis remains poorly understood. To address this, we systematically mapped the protein interaction networks of wild-type KRAS and three high-frequency oncogenic mutants (G12C, G12D, and G12V) using TurboID proximity labeling coupled with quantitative proteomics. Bioinformatic analysis revealed mutant-specific binding partners and metabolic pathway alterations, including significant enrichment in insulin signaling, reactive oxygen species regulation

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Mansouri, Sheila, Suganth Suppiah, Yasin Mamatjan, et al. "Epigenomic, genomic, and transcriptomic landscape of schwannomatosis." Acta Neuropathologica 141, no. 1 (2020): 101–16. http://dx.doi.org/10.1007/s00401-020-02230-x.

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AbstractSchwannomatosis (SWNTS) is a genetic cancer predisposition syndrome that manifests as multiple and often painful neuronal tumors called schwannomas (SWNs). While germline mutations in SMARCB1 or LZTR1, plus somatic mutations in NF2 and loss of heterozygosity in chromosome 22q have been identified in a subset of patients, little is known about the epigenomic and genomic alterations that drive SWNTS-related SWNs (SWNTS-SWNs) in a majority of the cases. We performed multiplatform genomic analysis and established the molecular signature of SWNTS-SWNs. We show that SWNTS-SWNs harbor distinc

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Smith, M. J., B. Isidor, C. Beetz, et al. "Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis." Neurology 84, no. 2 (2014): 141–47. http://dx.doi.org/10.1212/wnl.0000000000001129.

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Güemes, María, Álvaro Martín-Rivada, Neimar Valentina Ortiz-Cabrera, Gabriel Ángel Martos-Moreno, Jesús Pozo-Román, and Jesús Argente. "LZTR1: Genotype Expansion in Noonan Syndrome." Hormone Research in Paediatrics 92, no. 4 (2019): 269–75. http://dx.doi.org/10.1159/000502741.

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Chinton, Josefina, Victoria Huckstadt, Mafalda Mucciolo, et al. "Providing more evidence on LZTR1 variants in Noonan syndrome patients." American Journal of Medical Genetics Part A 182, no. 2 (2019): 409–14. http://dx.doi.org/10.1002/ajmg.a.61445.

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Mehta, Gautam U., Michael J. Feldman, Herui Wang, Dale Ding, and Prashant Chittiboina. "Unilateral vestibular schwannoma in a patient with schwannomatosis in the absence of LZTR1 mutation." Journal of Neurosurgery 125, no. 6 (2016): 1469–71. http://dx.doi.org/10.3171/2015.11.jns151766.

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The presence of vestibular schwannomas has long been considered an exclusion criterion for the diagnosis of schwannomatosis. Recently, 2 cases of vestibular schwannoma were reported in patients with schwannomatosis, leading to a revision of the diagnostic criteria for this genetic disorder. Overall, the relative infrequency of vestibular schwannomas in schwannomatosis is unexplained, and the genetics of this uncommon phenomenon have not been described. The authors report on a family with clinical manifestations consistent with schwannomatosis, including 4 affected members, that was identified

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Evans, D. Gareth, Naomi L. Bowers, Simon Tobi, et al. "Schwannomatosis: a genetic and epidemiological study." Journal of Neurology, Neurosurgery & Psychiatry 89, no. 11 (2018): 1215–19. http://dx.doi.org/10.1136/jnnp-2018-318538.

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ObjectivesSchwannomatosis is a dominantly inherited condition predisposing to schwannomas of mainly spinal and peripheral nerves with some diagnostic overlap with neurofibromatosis-2 (NF2), but the underlying epidemiology is poorly understood. We present the birth incidence and prevalence allowing for overlap with NF2.MethodsSchwannomatosis and NF2 cases were ascertained from the Manchester region of England (population=4.8 million) and from across the UK. Point prevalence and birth incidence were calculated from regional birth statistics. Genetic analysis was also performed on NF2, LZTR1 and

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Pagnamenta, Alistair T., Pamela J. Kaisaki, Fenella Bennett, et al. "Delineation of dominant and recessive forms of LZTR1 ‐associated Noonan syndrome." Clinical Genetics 95, no. 6 (2019): 693–703. http://dx.doi.org/10.1111/cge.13533.

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Busley, Alexandra Viktoria, Óscar Gutiérrez-Gutiérrez, Elke Hammer, et al. "Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome." Cell Reports 43, no. 7 (2024): 114448. http://dx.doi.org/10.1016/j.celrep.2024.114448.

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Nakaguma, Marilena, Alexander A. L. Jorge, and Ivo J. P. Arnhold. "Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants." Genetics in Medicine 21, no. 1 (2018): 260. http://dx.doi.org/10.1038/s41436-018-0041-5.

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Wieleba, Irena, Paulina Smoleń, Ewa Czukiewska, Dominika Szcześniak, and Agata A. Filip. "LZTR1: c.1260+1del Variant as a Significant Predictor of Early-Age Breast Cancer Development: Case Report Combined with In Silico Analysis." International Journal of Molecular Sciences 26, no. 14 (2025): 6704. https://doi.org/10.3390/ijms26146704.

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According to the guidelines of the American Society of Clinical Oncology (ASCO) and the European Society of Medical Oncology (ESMO), the most significant genetic factor in the diagnosis and treatment of breast cancer is the mutation status of the BRCA1 and BRCA2 genes. Additional genes with a significant influence on cancer risk were selected for genetic panel screening. For these genes, the disease risk score was predicted to be greater than 20%. In clinical practice, it is observed that rare genetic variants have a significant impact in young patients, characterized by increased pathogenesis

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Morshed, Ramin, Anthony Lee, Young Lee, Cynthia Chin, and Line Jacques. "Schwannomatosis of the Spinal Accessory Nerve: A Case Report." Journal of Brachial Plexus and Peripheral Nerve Injury 14, no. 01 (2019): e9-e13. http://dx.doi.org/10.1055/s-0039-1685457.

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AbstractSchwannomatosis is a distinct syndrome characterized by multiple peripheral nerve schwannomas that can be sporadic or familial in nature. Cases affecting the lower cranial nerves are infrequent. Here, the authors present a rare case of schwannomatosis affecting the left spinal accessory nerve. Upon genetic screening, an in-frame insertion at codon p.R177 of the Sox 10 gene was observed. There were no identifiable alterations in NF1, NF2, LZTR1, and SMARCB1. This case demonstrates a rare clinical presentation of schwannomatosis in addition to a genetic aberration that has not been previ

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Sewduth, Raj Nayan, Silvia Pandolfi, Mikhail Steklov, et al. "The Noonan Syndrome Gene Lztr1 Controls Cardiovascular Function by Regulating Vesicular Trafficking." Circulation Research 126, no. 10 (2020): 1379–93. http://dx.doi.org/10.1161/circresaha.119.315730.

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Gripp, K. W., L. Baker, V. Kandula, et al. "Constitutional LZTR1 mutation presenting with a unilateral vestibular schwannoma in a teenager." Clinical Genetics 92, no. 5 (2017): 540–43. http://dx.doi.org/10.1111/cge.13013.

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Perin, Francesca, Juan Pablo Trujillo-Quintero, Juan Jimenez-Jaimez, María del Mar Rodríguez-Vázquez del Rey, Lorenzo Monserrat, and Luis Tercedor. "Two Novel Cases of Autosomal Recessive Noonan Syndrome Associated With LZTR1 Variants." Revista Española de Cardiología (English Edition) 72, no. 11 (2019): 978–80. http://dx.doi.org/10.1016/j.rec.2019.05.002.

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Ibe, Masaki, Shinobu Tamura, Hideki Kosako, et al. "Familial schwannomatosis carrying LZTR1 variant p.R340X with brain tumor: A case report." Molecular Genetics and Metabolism Reports 40 (September 2024): 101107. http://dx.doi.org/10.1016/j.ymgmr.2024.101107.

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Hu, Yali, Xiangyu Zhu, Yuehua Yang, et al. "Incidences of micro-deletion/duplication 22q11.2 detected by multiplex ligation-dependent probe amplification in patients with congenital cardiac disease who are scheduled for cardiac surgery." Cardiology in the Young 19, no. 2 (2009): 179–84. http://dx.doi.org/10.1017/s1047951109003667.

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AbstractBackground22q11.2 microdeletion is the most common microdeletion in the global population. Congenital cardiac disease is the most frequently observed feature of this syndrome. The prognosis of patients with 22q11.2 copy number aberrations varies from those without 22q11.2 deletion or duplication.MethodsWe enrolled 241 patients from Nanjing Drum Tower Hospital and Nanjing Sick Children’s Hospital, 227 being scheduled for cardiac surgery, and 14 cases being fetuses aged from 24 to 36 gestational weeks. We performed karyotypic analysis and multiplex ligation-dependent probe amplification

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Köllges, Ricarda, Jil Stegmann, Sophia Schneider, et al. "Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation." Biomolecules 13, no. 7 (2023): 1117. http://dx.doi.org/10.3390/biom13071117.

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Background: The bladder exstrophy-epispadias complex (BEEC) is a spectrum of congenital abnormalities that involves the abdominal wall, the bony pelvis, the urinary tract, the external genitalia, and, in severe cases, the gastrointestinal tract as well. Methods: Herein, we performed an exome analysis of case-parent trios with cloacal exstrophy (CE), the most severe form of the BEEC. Furthermore, we surveyed the exome of a sib-pair presenting with classic bladder exstrophy (CBE) and epispadias (E) only. Moreover, we performed large-scale re-sequencing of CBE individuals for novel candidate gene

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Huong, Quynh Tran Thuy, Linh Tran Nguyen Truc, Hiroko Ueda, et al. "Nerve Enlargement in Patients with INF2 Variants Causing Peripheral Neuropathy and Focal Segmental Glomerulosclerosis." Biomedicines 13, no. 1 (2025): 127. https://doi.org/10.3390/biomedicines13010127.

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Background: Charcot–Marie–Tooth (CMT) disease is an inherited peripheral neuropathy primarily involving motor and sensory neurons. Mutations in INF2, an actin assembly factor, cause two diseases: peripheral neuropathy CMT-DIE (MIM614455) and/or focal segmental glomerulosclerosis (FSGS). These two phenotypes arise from the progressive degeneration affecting podocytes and Schwann cells. In general, nerve enlargement has been reported in 25% of the demyelinating CMT subtype (CMT1), while little is known about the CMT-DIE caused by INF2 variants. Methods: To characterize the peripheral nerve pheno

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