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Waardenburg syndrome (WS), also known as auditory-pigmentary syndrome, is the most common cause of syndromic hearing loss. It is responsible for 2–5% of congenital deafness. WS is classified into four types depending on the clinical phenotypes. Currently, pathogenic mutation of  PAX3 ,  MITF ,  EDNRB ,  EDN3 ,  SNAI2 , or  SOX10  can cause corresponding types of WS. Among them,  SOX10  mutation is responsible for approximately 15% of type II WS or 50% of type IV WS. We report the case of a proband in a Chinese family who was diagnosed with WS type II. Whole exome sequencing (WES) of the proband detected a novel heterozygous spontaneous mutation:  SOX10  c.246delC. According to analysis based on nucleic acid and amino acid sequences, this mutation may produce a truncated protein, with loss of the HMG structure domain. Therefore, this truncated protein may fail to activate the expression of the  MITF  gene, which regulates melanocytic development and plays a key role in WS. Our finding expands the database of  SOX10  mutations associated with WS and provides more information regarding the molecular mechanism of WS.

A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II