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

K Noben-Trauth, QY Zheng, KR Johnson - Nature genetics, 2003 - nature.com
K Noben-Trauth, QY Zheng, KR Johnson
Nature genetics, 2003nature.com
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 …
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.
nature.com