Int J Pediatr Otorhinolaryngol
September 2014
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.