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

OBJECTIVE: To investigate the genetic causes of consanguineous Uyghur families with nonsyndromic deafness. METHOD: Seven 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. RESULT: Bi-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. CONCLUSION: Mutations in SLC26A4 was the most common causes of the Uyghur consanguineous deaf families.