Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss
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Open Access
- 10 August 2003
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 35 (1), 21-23
- https://doi.org/10.1038/ng1226
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.Keywords
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