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

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

Author information

1
Section on Neurogenetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, Maryland 20850, USA. nobentk@nidcd.nih.gov

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 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.

PMID:
12910270
PMCID:
PMC2864026
DOI:
10.1038/ng1226
[Indexed for MEDLINE]
Free PMC Article
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