Heterozygous deletion at the SOX10 gene locus in two patients from a Chinese family with Waardenburg syndrome type II

Abstract Objectives Waardenburg syndrome (WS) is a rare disease characterized by sensorineural deafness and pigment disturbance. To date, almost 100 mutations have been reported, but few reports on cases with SOX10 gene deletion. The inheritance pattern of SOX10 gene deletion is still unclear. Our objective was to identify the genetic causes of Waardenburg syndrome type II in a two-generation Chinese family. Methods Clinical evaluations were conducted in both of the patients. Microarray analysis and multiplex ligation-dependent probe amplification (MLPA) were performed to identify disease-related copy number variants (CNVs). DNA sequencing of the SOX10 , MITF and SNAI2 genes was performed to identify the pathogenic mutation responsible for WS2. Results A 280 kb heterozygous deletion at the 22q13.1 chromosome region (including SOX10 ) was detected in both of the patients. No mutation was found in the patients, unaffected family members and 30 unrelated healthy controls. Conclusions This report is the first to describe SOX10 heterozygous deletions in Chinese WS2 patients. Our result conform the thesis that heterozygous deletions at SOX10 is an important pathogenicity for WS, and present as autosomal dominant inheritance. Nevertheless, heterozygous deletion of the SOX10 gene would be worth investigating to understand their functions and contributions to neurologic phenotypes.