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- Title
Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss.
- Authors
Konrad Noben-Trauth; Qing Yin Zheng; Johnson, Kenneth R.
- Abstract
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 Cdh23753A allele causes in-frame skipping of exon 7. Altered adhesion or reduced stability of CDH23 may confer susceptibility to AHL. Homozygosity at Cdh23753A or in combination with heterogeneous secondary factors is a primary determinant of AHL in mice.
- Subjects
PRESBYCUSIS; MICE; GENETIC polymorphisms; EAR diseases
- Publication
Nature Genetics, 2003, Vol 35, Issue 1, p21
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng1226