Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss.
Alleles, Animal, Cadherins, Cloning-Organism, Hearing-Loss-Sensorineural, Inheritance-Patterns, Mice, Mice-Inbred-C57BL, Mice-Inbred-CBA, Mice-Inbred-Strains, Polymorphism-Single-Nucleotide
Nat Genet 2003 Sep; 35(1):21-3.
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.
Noben, Trauth K.; Zheng, Q Y.; and Johnson, K R., " Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss." (2003). Faculty Research 2000 - 2009. 583.