Mutation analysis of seven consanguineous Uyghur families with non-syndromic deafness

ObjectiveTo investigate the genetic causes of consanguineous Uyghur families with nonsyndromic deafness.MethodSeven consanguineous Uyghur families with nonsyndromic deafness were recruited in this study and characterized for their audiometric phenotype. Mutation analysis of common deafness genes GJB2, SLC26A4 and MT-RNR1 was performed in all families by direct sequencing.ResultBi-allelic mutations in SLC26A4, including p.N392Y/p.N392Y, p.S57X/p.S57X and p.Q413R/p.L676Q, were detected in three families as the pathogenic causes for the deafness. No mutations were identified in GJB2 and MT-RNR1.ConclusionMutations in SLC26A4 was the most common causes of the Uyghur consanguineous deaf families.