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

Int J Pediatr Otorhinolaryngol. 2014 Sep;78(9):1513-6. doi: 10.1016/j.ijporl.2014.06.023. Epub 2014 Jun 23.

Abstract

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.

Keywords: Consanguineous marriage; Deafness; Mutation; SLC26A4; Uyghur.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics*
  • China
  • Connexin 26
  • Connexins / genetics
  • Consanguinity*
  • DNA Mutational Analysis*
  • Family
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Male
  • Membrane Transport Proteins / genetics*
  • Mitochondria / genetics
  • Mutation
  • Pedigree
  • RNA, Ribosomal / genetics
  • Sulfate Transporters

Substances

  • Connexins
  • GJB2 protein, human
  • Membrane Transport Proteins
  • RNA, Ribosomal
  • RNA, ribosomal, 12S
  • SLC26A4 protein, human
  • Sulfate Transporters
  • Connexin 26

Supplementary concepts

  • Nonsyndromic sensorineural hearing loss