A Novel Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type IV

Abstract

Abstract Background Waardenburg syndrome (WS) is a genetic disorder that affects skin, hair, and iris pigmentation, and causes sensorineural deafness. The syndrome is classified into four types (WS1, WS2, WS3, and WS4), each with different clinical phenotypes and underlying genetic causes. The aim of this study is to identify the pathogenic mutation in a Chinese family with Waardenburg syndrome type IV. Methods The patient and her parents underwent a comprehensive examination. DNA was extracted from their peripheral venous blood. The mutation was identified through whole exome sequencing technology and was validated via Sanger sequencing. Results The patient presents with iris pigmentary anomalies, congenital megacolon, and sensorineural hearing loss. And we identified a heterozygous c.452_456dup mutation in exon 3 of the SOX10 gene, which is known to be associated with Waardenburg syndrome type Ⅳ. Our analysis suggests that this mutation produces a truncated protein that may contribute to the development of the disease. Conclusions Our findings provide additional information for diagnosing clinical diseases associated with mutations in the SOX10 gene and expand the existing database of such mutations. The use of WES and Sanger sequencing can aid in the accurate diagnosis and management of WS and related syndromes.