Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss.
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ABSTRACT:
SUBMITTER: Noben-Trauth K
PROVIDER: S-EPMC2864026 | biostudies-literature | 2003 Sep
REPOSITORIES: biostudies-literature
Publications
Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss.
Noben-Trauth Konrad K Zheng Qing Yin QY Johnson Kenneth R KR
Nature genetics 20030810 1
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 sec ...[more]
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