Novel mutations of SOX10 gene in Chinese patients with type II Waardenburg syndrome.

Waardenburg Syndrome (WS) is a condition characterized by sensorineural deafness and pigment disturbances of the skin, hair and iris. By using the latest genomics technology, the WS-related gene mutations and corresponding mechanisms have been widely studied and reported. and the high genetic heterogeneity of the disease has also been explained. However, the SOX10 gene transcription and expression has still be unclear. In this study, we determined the phenotypic gene expression of WS patients in two Chinese WS families. More importantly, we identified two novel SOX10 mutations, c.482-487del (p.R161-M162del)and c.52G > T (p.E18X) in WSII for the first time in the Chinese population.