Novel Missense Mutation in GJB1 Gene Leading to X-linked Charcot-Marie-Tooth Disease in Young Male: A Case Report.
| Autor: | Patra P; Department of Clinical Genetics, Institute of Genetics and Hospital for Genetic Disease, Osmania University, Hyderabad, Telangana, India. |
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| Jazyk: | angličtina |
| Zdroj: | Neurology India [Neurol India] 2024 Sep 01; Vol. 72 (5), pp. 1081-1083. Date of Electronic Publication: 2024 Oct 19. |
| DOI: | 10.4103/neurol-india.NI_837_19 |
| Abstrakt: | Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous disorder. As more genes are identified and overlapping of neuropathy phenotypes, the traditional classification of CMT often proves inadequate. A young male with typical clinical features was suspected to have CMT, but family history about the inheritance pattern and distinct features suggestive of particular subtypes were lacking. He was directly evaluated by whole exome sequencing (WES). The libraries from extracted DNA were sequenced on Illumina sequencing platform. The variant detected in WES was confirmed by Sanger sequencing. WES shows a likely pathogenic hemizygous missense variation in exon 2 of the gap junction protein beta 1(GJB1) gene (chrX: 70444104; C > T; Depth: 66x) that results in the substitution of cysteine for arginine at codon 183 (p.Arg183Cys). This novel variation expands the spectrum of GJB1 mutations associated with X-linked CMT (CMTX) to establish a specific genetic cause. (Copyright © 2024 Copyright: © 2024 Neurology India, Neurological Society of India.) |
| Databáze: | MEDLINE |
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