Nature Genetics
35, 21 - 23 (2003)
Published online: 10 August 2003; | doi:10.1038/ng1226
Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing lossKonrad Noben-Trauth1, Qing Yin Zheng2
& Kenneth R Johnson21
Section on Neurogenetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, Maryland 20850, USA. 2
The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine 04609, USA.
Correspondence should be addressed to Konrad Noben-Trauth nobentk@nidcd.nih.govAge-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.
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