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PMID: 12910270 Published · ppublish English Journal Article

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

Nature genetics ·Vol. 35 ·No. 1 ·2003-09-00 ·Pages 21-3

Noben-Trauth K, Zheng QY, Johnson KR

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 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.

MeSH Terms
Aging Alleles Animals Cadherins/genetics,physiology Cloning, Organism Hearing Loss, Sensorineural/genetics Inheritance Patterns Mice Mice, Inbred C57BL Mice, Inbred CBA Mice, Inbred Strains Polymorphism, Single Nucleotide
Chemicals
Cadherins Cdh23 protein, mouse
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Noben-Trauth Konrad
Section on Neurogenetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, Maryland 20850, USA. nobentk@nidcd.nih.gov
Zheng Qing Yin
Johnson Kenneth R
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Article Info
Journal
Nature genetics
Abbr.
Nat Genet
ISSN
1061-4036
DOI
10.1038/ng1226
Email
nobentk@nidcd.nih.gov
Published
2003-09-00
Epub
2003-00-10
Pages
21-3
Language
English
Region
United States
NLM ID
9216904
PMCID
PMC2864026
Subset
IM
Grants
NIDCD NIH HHS · R01 DC005827 · United States
NIDCD NIH HHS · R01 DC005827-03 · United States
NIDCD NIH HHS · R01 DC009246 · United States
NIDCD NIH HHS · R03 DC004376-01A1 · United States
NIDCD NIH HHS · R21 DC005846 · United States
NIDCD NIH HHS · R21 DC005846-01A1 · United States
NIDCD NIH HHS · R01 DC004301-05 · United States
NIDCD NIH HHS · R01 DC004301 · United States
External Links
PubMed source DOI: 10.1038/ng1226 PMC Full Text View journal details
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