Dora Varvara, Serena Lattante, Stefania Magri, Francesca Balistreri, Francesca De Razza, Franco Taroni, Salvatore Mauro
{"title":"A familial form of Charcot-Marie-Tooth disease (type 2d) caused by a previously unreported variant in <i>GARS1</i>.","authors":"Dora Varvara, Serena Lattante, Stefania Magri, Francesca Balistreri, Francesca De Razza, Franco Taroni, Salvatore Mauro","doi":"10.1080/01677063.2024.2428949","DOIUrl":null,"url":null,"abstract":"<p><p>Genetic variants in <i>GARS1</i> gene, encoding for the glycyl tRNA synthetase 1, cause Charcot-Marie-Tooth disease, type 2D (CMT2D). Here we describe a 14-year-old boy affected by neuropathy with prominent weakness in the upper extremities carrying two <i>in cis</i> missense variants in <i>GARS1</i> gene: the c.803C > T, p.Thr268Ile and the c.842T > A, p.Met281Lys. The mutated allele segregates in affected member of the family, thus supporting its pathogenic role. Although a combined role of these variants cannot be excluded, we suggest a strong association of the variant c.842T > A (p.Met281Lys), never reported in patients neither in controls, with the disease. In Italian patients, pathogenic variants in <i>GARS1</i> are very rare, so our result expands the mutational spectrum of the gene and the genetic epidemiology of CMT2D.</p>","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"1-3"},"PeriodicalIF":1.8000,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of neurogenetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/01677063.2024.2428949","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
Genetic variants in GARS1 gene, encoding for the glycyl tRNA synthetase 1, cause Charcot-Marie-Tooth disease, type 2D (CMT2D). Here we describe a 14-year-old boy affected by neuropathy with prominent weakness in the upper extremities carrying two in cis missense variants in GARS1 gene: the c.803C > T, p.Thr268Ile and the c.842T > A, p.Met281Lys. The mutated allele segregates in affected member of the family, thus supporting its pathogenic role. Although a combined role of these variants cannot be excluded, we suggest a strong association of the variant c.842T > A (p.Met281Lys), never reported in patients neither in controls, with the disease. In Italian patients, pathogenic variants in GARS1 are very rare, so our result expands the mutational spectrum of the gene and the genetic epidemiology of CMT2D.
期刊介绍：
The Journal is appropriate for papers on behavioral, biochemical, or cellular aspects of neural function, plasticity, aging or disease. In addition to analyses in the traditional genetic-model organisms, C. elegans, Drosophila, mouse and the zebrafish, the Journal encourages submission of neurogenetic investigations performed in organisms not easily amenable to experimental genetics. Such investigations might, for instance, describe behavioral differences deriving from genetic variation within a species, or report human disease studies that provide exceptional insights into biological mechanisms
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
