Article
Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss.
Nature genetics - 1 Sept 2003
Noben-Trauth Konrad, Zheng Qing Yin, Johnson Kenneth R
Abstract excerpt
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...
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