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

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.