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Gene Review

Cdh23  -  cadherin 23 (otocadherin)

Mus musculus

Synonyms: 4930542A03Rik, Cadherin-23, Otocadherin, USH1D, ahl, ...
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Disease relevance of Cdh23


High impact information on Cdh23

  • 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) [3].
  • The mouse Cdh23 locus is comprised of two 5'-untranslated exons and 69 coding exons; together they cover a genomic distance of at least 350 kb [4].
  • We recently showed that cadherins also play important roles in the inner ear; mutations in cadherin 23 (Cdh23) disrupt stereocilia organization on hair cells leading to deafness and vestibular dysfunction in waltzer mice [4].
  • Amino acid sequence alignments and secondary structure prediction suggest that Cdh23 ectodomains adopt a conformation similar to the classic cadherins [4].
  • A Cdh23 transcript with a spliced exon 68 is the predominantly expressed isoform in the organ of Corti [4].

Biological context of Cdh23

  • Cadherin 23 (Cdh23) and protocadherin 15 (Pcdh15), mapping within the 95% confidence interval of ahl5, bear nucleotide polymorphisms in coding exons, but these appear to be unrelated to the hearing phenotype [5].
  • Haplotype analyses across the Cdh23 locus demonstrated the phylogenetic relationship between Black Swiss and common inbred strains [5].
  • A point mutation in a cadherin gene, Cdh23, causes deafness in a novel mutant, Waltzer mouse niigata [6].
  • In contrast, CBy/ CAST-dfw2J/+ heterozygotes expressing even a single copy of the CAST/Ei-derived mdfw allele (Mdfw) retain their normal hearing function [7].
  • By linkage analysis, we localized this locus (mdfw) to Chromosome 10, between markers D10Mit127 and D10Mit185, within a 4.0 +/- 1.1 cM genetic interval [7].

Anatomical context of Cdh23

  • In addition, Myo1c does not bind to stereocilia from mice whose hair cells lack Cdh23 protein despite the presence of PIP2 in the stereociliary membranes [8].
  • In contrast, FLAG-tagged TMCy:p.Arg3175His and human TMCy:c.9625_9626insC forms were both localized to the plasma membrane in cultured cells, allowing prediction that USH1D-associated CDH23:p.Arg3175His and CDH23:c.9625_9626insC proteins could be transported to the plasma membrane in vivo [9].

Associations of Cdh23 with chemical compounds

  • The findings suggest that changes in the alpha-amino-3-hydroxy-5-methyl-4-isoxazole glutamate receptor subunits and/or their binding proteins are part of the phenotype of ahl, and may reflect a role of the glutamate receptor pathway in the mechanism of ahl [10].

Physical interactions of Cdh23

  • Here we describe the identification and characterization of a new allele of deaf waddler (dfw2J) and present evidence for a hearing susceptibility locus (mdfw) that interacts with dfw [7].

Other interactions of Cdh23

  • Our results reveal an epistatic relationship between the mdfw and the dfw genes and provide a model system to study nonsyndromic hearing loss in mice [7].


  1. The Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC. Johnson, K.R., Zheng, Q.Y., Weston, M.D., Ptacek, L.J., Noben-Trauth, K. Genomics (2005) [Pubmed]
  2. Progressive hearing loss and increased susceptibility to noise-induced hearing loss in mice carrying a Cdh23 but not a Myo7a mutation. Holme, R.H., Steel, K.P. J. Assoc. Res. Otolaryngol. (2004) [Pubmed]
  3. Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss. Noben-Trauth, K., Zheng, Q.Y., Johnson, K.R. Nat. Genet. (2003) [Pubmed]
  4. Genomic structure, alternative splice forms and normal and mutant alleles of cadherin 23 (Cdh23). Di Palma, F., Pellegrino, R., Noben-Trauth, K. Gene (2001) [Pubmed]
  5. Mapping quantitative trait loci for hearing loss in Black Swiss mice. Drayton, M., Noben-Trauth, K. Hear. Res. (2006) [Pubmed]
  6. A point mutation in a cadherin gene, Cdh23, causes deafness in a novel mutant, Waltzer mouse niigata. Wada, T., Wakabayashi, Y., Takahashi, S., Ushiki, T., Kikkawa, Y., Yonekawa, H., Kominami, R. Biochem. Biophys. Res. Commun. (2001) [Pubmed]
  7. mdfw: a deafness susceptibility locus that interacts with deaf waddler (dfw). Noben-Trauth, K., Zheng, Q.Y., Johnson, K.R., Nishina, P.M. Genomics (1997) [Pubmed]
  8. Stereociliary myosin-1c receptors are sensitive to calcium chelation and absent from cadherin 23 mutant mice. Phillips, K.R., Tong, S., Goodyear, R., Richardson, G.P., Cyr, J.L. J. Neurosci. (2006) [Pubmed]
  9. Fates of Cdh23/CDH23 with mutations affecting the cytoplasmic region. Yonezawa, S., Yoshizaki, N., Kageyama, T., Takahashi, T., Sano, M., Tokita, Y., Masaki, S., Inaguma, Y., Hanai, A., Sakurai, N., Yoshiki, A., Kusakabe, M., Moriyama, A., Nakayama, A. Hum. Mutat. (2006) [Pubmed]
  10. Morphology, GluR1 and GRIP-C localization differ in octopus cells of C57BL6 and B6Cast mice. Schwartz, I.R., Keh, A., Hsu, G. Hear. Res. (2002) [Pubmed]
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