Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome

Abstract

Objective: We analyzed the clinical features and family-related gene mutations for the first two Chinese cases of type IV Waardenburg syndrome (WS4).

Methods: Two families were analyzed in this study. The analysis included a medical history, clinical analysis, a hearing test and a physical examination. In addition, the EDNRB, EDN3 and SOX10 genes were sequenced in order to identify the pathogenic mutation responsible for the WS4 observed in these patients.

Results: The two WS4 cases presented with high phenotypic variability. Two novel heterozygous mutations (c.254G>A and c.698-2A>T) in the SOX10 gene were detected. The mutations identified in the patients were not found in unaffected family members or in 200 unrelated control subjects.

Conclusions: This is the first report of WS4 in Chinese patients. In addition, two novel mutations in SOX10 gene have been identified.