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={K. Noben-Trauth and Q. 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… Expand
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References

SHOWING 1-10 OF 17 REFERENCES
Molecular genetics of hearing loss.
The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions
...
1
2
...