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

@article{NobenTrauth2003AssociationOC,
  title={Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss},
  author={Konrad Noben-Trauth and Qing Zheng and Kenneth R. Johnson},
  journal={Nature Genetics},
  year={2003},
  volume={35},
  pages={21-23}
}
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… CONTINUE READING