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We aim to identify the mutations of deafness genes using massively parallel DNA sequencing in the 12 Uyghur families. SNPscan method was used to screen against the 124 sites in the common deafness genes in probands. Subjects with SNPscan negativity were subject to massively parallel DNA sequencing for the sequencing of 97 genes known to be responsible for hearing loss. Eight families (66.7%) showed biallelic mutations in probands, including  MYO15A  mutation ( 6892C>T  in J02 family,  9514C>T/7894G>T  in J07 family, and  9514C>T  in J16 family),  MYO7A  mutation ( 1258A>T  in J03 family),  TMC1  mutation ( 773G>A  in J09 family and  1247T>G/1312G>A  in J11 family), and  PCDH15  mutation ( 4658delT  in J08 and J13 families). Six novel types of mutation were identified including  6892C>T ,  9514C>T/7894G>T , and  9514C>T  in  MYO15A  gene,  1258A>T  in  MYO7A ,  773G>A  in  TMC1 , and  4658delT  in  PCDH15 . The ratio of nonsense mutation and frameshift mutation was comparatively high. All these indicated that the mutation types reported in this study were rare. In conclusion, rare deafness genes were identified in the Uyghur families using massively parallel DNA sequencing, part of which were suggested to be related to the pathogenesis of the disease.

Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique