Molecular analysis of SLC26A4 gene in a Chinese deafness family

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Aug;22(4):376-9.

Abstract

Objective: To identify the pathogenic gene for a non-syndromic hearing loss family.

Methods: Mutation analysis was carried out by polymerase chain reaction and direct sequencing of all exons of SLC26A4 (solute carrier family 26, member 4) gene.

Results: Compound heterozygous mutations N392Y and S448X were detected in the proband of the family, heterozygous mutation S448X was detected in the father, heterozygous mutation N392Y was detected in the mother.

Conclusion: The proband's hearing loss resulted from the compound heterozygous mutations N392Y and S448X for SLC26A4 gene.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Base Sequence
  • DNA Mutational Analysis
  • Deafness / diagnostic imaging
  • Deafness / genetics*
  • Deafness / pathology
  • Family Health
  • Female
  • Humans
  • Male
  • Membrane Transport Proteins / genetics*
  • Molecular Sequence Data
  • Mutation*
  • Polymerase Chain Reaction
  • Sulfate Transporters
  • Tomography, X-Ray Computed

Substances

  • Membrane Transport Proteins
  • SLC26A4 protein, human
  • Sulfate Transporters

Associated data

  • OMIM/600791
  • OMIM/603545