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Waardenburg syndrome (WS) characterized by sensorineural hearing loss and pigmentary abnormalities is genetically heterogeneous and phenotypically variable. This study investigated the molecular etiology and genotype-phenotype correlation of WS in 36 Chinese Han deaf probands and 16 additional family members that were clinically diagnosed with WS type I (WS1, n = 8) and type II (WS2, n = 42). Mutation screening of six WS-associated genes detected  PAX3  mutations in 6 (86%) of the 7 WS1 probands. Among the 29 WS2 probands, 13 (45%) and 10 (34%) were identified with  SOX10  and  MITF  mutations, respectively. Nineteen of the 26 detected mutations were novel. In WS2 probands whose parental DNA samples were available,  de novo  mutations were frequently seen for  SOX10  mutations (7/8) but not for  MITF  mutations (0/5,  P  = 0.005). Excessive freckle, a common feature of WS2 in Chinese Hans, was frequent in WS2 probands with  MITF  mutations (7/10) but not in those with  SOX10  mutations (0/13,  P  = 4.9 × 10 −4 ). Our results showed that mutations in  SOX10  and  MITF  are two major causes for deafness associated with WS2. These two subtypes of WS2 can be distinguished by the high  de novo  rate of the  SOX10  mutations and the excessive freckle phenotype exclusively associated with the  MITF  mutations.

Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome