A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II.

We report the case of a proband in a Chinese family who was diagnosed with WS type II. Whole exome sequencing (WES) of the proband detected a novel heterozygous spontaneous mutation: SOX10 c.246delC. According to analysis based on nucleic acid and amino acid sequences, this mutation may produce a truncated protein, with loss of the HMG structure domain. Therefore, this truncated protein may fail to activate the expression of the MITF gene, which regulates melanocytic development and plays a key role in WS. Our finding expands the database of SOX10 mutations associated with WS and provides more information regarding the molecular mechanism of WS. PMID: 32908492 [PubMed - in process]

https://www.ncbi.nlm.nih.gov/pubmed/32908492?dopt=Abstract

Source: Neural Plasticity - September 12, 2020 Category: Neurology Authors: Chen S, Jin Y, Xie L, Xie W, Xu K, Qiu Y, Bai X, Zhang HM, Liu XZ, Wang XH, Kong WJ, Sun Y Tags: Neural Plast Source Type: research