Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss

Nat Genet. 2003 Sep;35(1):21-3. doi: 10.1038/ng1226. Epub 2003 Aug 10.


Age-related hearing loss (AHL) in common inbred mouse strains is a genetically complex quantitative trait. We found a synonymous single-nucleotide polymorphism in exon 7 of Cdh23 that shows significant association with AHL and the deafness modifier mdfw (modifer of deafwaddler). The hypomorphic Cdh23(753A) allele causes in-frame skipping of exon 7. Altered adhesion or reduced stability of CDH23 may confer susceptibility to AHL. Homozygosity at Cdh23(753A) or in combination with heterogeneous secondary factors is a primary determinant of AHL in mice.

MeSH terms

  • Aging
  • Alleles
  • Animals
  • Cadherins / genetics*
  • Cadherins / physiology
  • Cloning, Organism
  • Hearing Loss, Sensorineural / genetics*
  • Inheritance Patterns
  • Mice
  • Mice, Inbred C57BL
  • Mice, Inbred CBA
  • Mice, Inbred Strains
  • Polymorphism, Single Nucleotide


  • Cadherins
  • Cdh23 protein, mouse