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Gene Review

CDH23  -  cadherin-related 23

Homo sapiens

Synonyms: CDHR23, Cadherin-23, KIAA1774, KIAA1812, Otocadherin, ...
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Disease relevance of CDH23


High impact information on CDH23


Biological context of CDH23


Anatomical context of CDH23

  • CDH23 is also expressed in the cochlea, as is demonstrated by polymerase chain reaction amplification from cochlear cDNA [11].
  • In the ear, CDH23 and harmonin are expressed in the stereocilia of hair cells, and in the retina within the photoreceptor cell layer [12].
  • The left temporal bone of patient 2, classified as Usher syndrome genetic subtype USH1D or USH1F, demonstrated the typical signs of severe cochleosaccular degeneration [13].
  • In addition, Cdh23 is expressed in the urticulo-saccular foramen,the ductus reuniens, and Reissner's membrane, suggesting that Cdh23 may also be involved in maintaining the ionic composition of the endolymph [14].
  • BUS/Idr mice carrying a mutant waltzer allele (vbus) are characterized by splayed hair bundles in inner ear sensory cells, providing a mouse homolog of USH1D/DFNB12 [15].

Associations of CDH23 with chemical compounds

  • In addition, other aspartic and glutamic acid residue substitutions in the highly conserved calcium-binding sites reported to cause DFNB12 are also likely to result in a decreased affinity for calcium [2].
  • Two PDZ domains in harmonin interact with two complementary binding surfaces in the CDH23 cytoplasmic domain [12].

Other interactions of CDH23

  • Altogether, our data indicate that CDH23 and PCDH15 play an essential long-term role in maintaining the normal organization of the stereocilia bundle [7].
  • Recently, a variant of the human ATP2B2 gene was shown to exacerbate hearing loss in individuals homozygous for a CDH23 mutation, similar to the Atp2b2(dfw-2J)-Cdh23(753A/G) interaction affecting hearing in mice [16].
  • Mutations in the cadherin 23 gene (CDH23) cause Usher syndrome type 1D in humans, a disease that results in retinitis pigmentosa and deafness [4].
  • DFNB9 and DFNB12 [17].

Analytical, diagnostic and therapeutic context of CDH23


  1. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Bolz, H., von Brederlow, B., Ramírez, A., Bryda, E.C., Kutsche, K., Nothwang, H.G., Seeliger, M., del C-Salcedó Cabrera, M., Vila, M.C., Molina, O.P., Gal, A., Kubisch, C. Nat. Genet. (2001) [Pubmed]
  2. Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family. de Brouwer, A.P., Pennings, R.J., Roeters, M., Van Hauwe, P., Astuto, L.M., Hoefsloot, L.H., Huygen, P.L., van den Helm, B., Deutman, A.F., Bork, J.M., Kimberling, W.J., Cremers, F.P., Cremers, C.W., Kremer, H. Hum. Genet. (2003) [Pubmed]
  3. 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]
  4. Cdh23 mutations in the mouse are associated with retinal dysfunction but not retinal degeneration. Libby, R.T., Kitamoto, J., Holme, R.H., Williams, D.S., Steel, K.P. Exp. Eye Res. (2003) [Pubmed]
  5. Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D. Di Palma, F., Holme, R.H., Bryda, E.C., Belyantseva, I.A., Pellegrino, R., Kachar, B., Steel, K.P., Noben-Trauth, K. Nat. Genet. (2001) [Pubmed]
  6. CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. Astuto, L.M., Bork, J.M., Weston, M.D., Askew, J.W., Fields, R.R., Orten, D.J., Ohliger, S.J., Riazuddin, S., Morell, R.J., Khan, S., Riazuddin, S., Kremer, H., van Hauwe, P., Moller, C.G., Cremers, C.W., Ayuso, C., Heckenlively, J.R., Rohrschneider, K., Spandau, U., Greenberg, J., Ramesar, R., Reardon, W., Bitoun, P., Millan, J., Legge, R., Friedman, T.B., Kimberling, W.J. Am. J. Hum. Genet. (2002) [Pubmed]
  7. Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. Zheng, Q.Y., Yan, D., Ouyang, X.M., Du, L.L., Yu, H., Chang, B., Johnson, K.R., Liu, X.Z. Hum. Mol. Genet. (2005) [Pubmed]
  8. Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. Roux, A.F., Faugère, V., Le Guédard, S., Pallares-Ruiz, N., Vielle, A., Chambert, S., Marlin, S., Hamel, C., Gilbert, B., Malcolm, S., Claustres, M. J. Med. Genet. (2006) [Pubmed]
  9. Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D. von Brederlow, B., Bolz, H., Janecke, A., La O Cabrera, A., Rudolph, G., Lorenz, B., Schwinger, E., Gal, A. Hum. Mutat. (2002) [Pubmed]
  10. Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies. Bolz, H., Ebermann, I., Gal, A. Mol. Vis. (2005) [Pubmed]
  11. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Bork, J.M., Peters, L.M., Riazuddin, S., Bernstein, S.L., Ahmed, Z.M., Ness, S.L., Polomeno, R., Ramesh, A., Schloss, M., Srisailpathy, C.R., Wayne, S., Bellman, S., Desmukh, D., Ahmed, Z., Khan, S.N., Kaloustian, V.M., Li, X.C., Lalwani, A., Riazuddin, S., Bitner-Glindzicz, M., Nance, W.E., Liu, X.Z., Wistow, G., Smith, R.J., Griffith, A.J., Wilcox, E.R., Friedman, T.B., Morell, R.J. Am. J. Hum. Genet. (2001) [Pubmed]
  12. The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions. Siemens, J., Kazmierczak, P., Reynolds, A., Sticker, M., Littlewood-Evans, A., Müller, U. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
  13. Histopathologic features of the temporal bone in usher syndrome type I. Wagenaar, M., Schuknecht, H., Nadol, J., Benraad-Van Rens, M., Pieke-Dahl, S., Kimberling, W., Cremers, C. Arch. Otolaryngol. Head Neck Surg. (2000) [Pubmed]
  14. Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice. Wilson, S.M., Householder, D.B., Coppola, V., Tessarollo, L., Fritzsch, B., Lee, E.C., Goss, D., Carlson, G.A., Copeland, N.G., Jenkins, N.A. Genomics (2001) [Pubmed]
  15. 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]
  16. Strain background effects and genetic modifiers of hearing in mice. Johnson, K.R., Zheng, Q.Y., Noben-Trauth, K. Brain Res. (2006) [Pubmed]
  17. DFNB9 and DFNB12. Yasunaga, S., Grati, M., Petit, C. Adv. Otorhinolaryngol. (2000) [Pubmed]
  18. Assignment of the canine cadherin related 23 gene (CDH23) to chromosome 4q12-->q13 by fluorescence in situ hybridization and radiation hybrid mapping. Kuiper, H., Rak, S.G., Drögemüller, C., Leeb, T., Quignon, P., Galibert, F., Distl, O. Cytogenet. Genome Res. (2002) [Pubmed]
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