Reviewed February 2007
What is the official name of the CDH23 gene?
The official name of this gene is “cadherin-related 23.”
CDH23 is the gene's official symbol. The CDH23 gene is also known by other names, listed below.
What is the normal function of the CDH23 gene?
The CDH23 gene provides instructions for making a protein called cadherin 23, a type of protein that helps cells stick together. Different cell types make different versions of this protein, including a short version in the light-sensitive layer in the back of the eye (the retina) and a longer version in the inner ear. Cadherin 23 interacts with other proteins in the cell membrane as part of a protein complex that is involved in cell attachment.
Research suggests that the cadherin 23 protein complex shapes inner ear structures called hair bundles. These structures are made of stereocilia, which are hairlike projections that bend in response to sound waves. This bending motion is critical for converting sound waves to nerve impulses, which is an essential process for normal hearing. The protein complex may organize hair bundles by cross-linking the stereocilia and helping to promote the transmission of sound waves.
In the retina, the role of the cadherin 23 protein complex is less well understood. Its presence in specialized cells that detect light and color (photoreceptor cells) suggests that it plays a critical role in the development and function of these cells.
Does the CDH23 gene share characteristics with other genes?
The CDH23 gene belongs to a family of genes called CDH (cadherins).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
How are changes in the CDH23 gene related to health conditions?
- nonsyndromic hearing loss - caused by mutations in the CDH23 gene
Several dozen mutations in the CDH23 gene have been identified in people with nonsyndromic hearing loss, which is loss of hearing that is not associated with other signs and symptoms. Mutations in this gene cause a form of hearing loss designated as DFNB12. This type of hearing loss begins before a child learns to speak (prelingual) and is severe to profound.
Most of the mutations that cause DFNB12 change single protein building blocks (amino acids) in cadherin 23. These mutations reduce but do not eliminate the function of this protein. The altered protein disrupts development of stereocilia in the inner ear, which leads to hearing loss.
Researchers speculate that some children with nonsyndromic hearing loss caused by a CDH23 mutation may actually have an early form of Usher syndrome. A few children with DFNB12 have gone on to develop retinitis pigmentosa, a vision disorder characteristic of Usher syndrome, later in life.
- Usher syndrome - caused by mutations in the CDH23 gene
More than 30 mutations in the CDH23 gene have been shown to cause Usher syndrome type 1D. Many of these mutations change one DNA building block (base pair) in the CDH23 gene. Most genetic changes disrupt protein production, resulting in an abnormally small, nonfunctional version of cadherin 23. Insertions of small amounts of DNA in the CDH23 gene can also result in a nonfunctional version of this protein. A deficiency of cadherin 23 can lead to improper development of the inner ear and retina, resulting in the loss of hearing and vision typical of Usher syndrome.
Where is the CDH23 gene located?
Cytogenetic Location: 10q22.1
Molecular Location on chromosome 10: base pairs 71,396,934 to 71,815,947
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/64072))
The CDH23 gene is located on the long (q) arm of chromosome 10 at position 22.1.
More precisely, the CDH23 gene is located from base pair 71,396,934 to base pair 71,815,947 on chromosome 10.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about CDH23?
You and your healthcare professional may find the following resources about CDH23 helpful.
Educational resources - Information pages
- Neuroscience (second edition, 2001): Hair Cells and the Mechanoelectrical Transduction of Sound Waves (http://www.ncbi.nlm.nih.gov/books/NBK10867/)
- Neuroscience (second edition, 2001): The Retina (http://www.ncbi.nlm.nih.gov/books/NBK10885/)
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1265)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for CDH23 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64072%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28CDH23%5BTIAB%5D%29%20OR%20%28cadherin%20related%2023%5BTIAB%5D%29%29%20OR%20%28%28cadherin-23%5BTIAB%5D%29%20OR%20%28otocadherin%5BTIAB%5D%29%20OR%20%28USH1D%5BTIAB%5D%29%20OR%20%28DFNB12%5BTIAB%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/605516)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_CDH23.html)
- Hereditary Hearing Loss Homepage (http://hereditaryhearingloss.org/)
- HGNC Gene Family: Cadherin-related (http://www.genenames.org/cgi-bin/genefamilies/set/24)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=13733)
- Leiden Open Variation Database: CDH23 Gene Mutations (https://research.cchmc.org/LOVD2/home.php?select_db=CDH23)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/64072)
- RetNet: Summaries of Genes and Loci Causing Retinal Diseases: CDH23 (https://sph.uth.edu/retnet/disease.htm)
What other names do people use for the CDH23 gene or gene products?
- cadherin-like 23
- cadherin related 23
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding CDH23?
autosomal recessive ;
base pair ;
cell membrane ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Astuto LM, Bork JM, Weston MD, Askew JW, Fields RR, Orten DJ, Ohliger SJ, Riazuddin S, Morell RJ, Khan S, Riazuddin S, Kremer H, van Hauwe P, Moller CG, Cremers CW, Ayuso C, Heckenlively JR, Rohrschneider K, Spandau U, Greenberg J, Ramesar R, Reardon W, Bitoun P, Millan J, Legge R, Friedman TB, Kimberling WJ. CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. Am J Hum Genet. 2002 Aug;71(2):262-75. Epub 2002 Jun 19. (http://www.ncbi.nlm.nih.gov/pubmed/12075507?dopt=Abstract)
- Bolz H, von Brederlow B, Ramírez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C-Salcedó Cabrera M, Vila MC, Molina OP, Gal A, Kubisch C. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nat Genet. 2001 Jan;27(1):108-12. (http://www.ncbi.nlm.nih.gov/pubmed/11138009?dopt=Abstract)
- Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet. 2001 Jan;68(1):26-37. Epub 2000 Nov 21. (http://www.ncbi.nlm.nih.gov/pubmed/11090341?dopt=Abstract)
- Miyagawa M, Nishio SY, Usami S. Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study. PLoS One. 2012;7(8):e40366. doi: 10.1371/journal.pone.0040366. Epub 2012 Aug 10. (http://www.ncbi.nlm.nih.gov/pubmed/22899989?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/64072)
- Oshima A, Jaijo T, Aller E, Millan JM, Carney C, Usami S, Moller C, Kimberling WJ. Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I. Hum Mutat. 2008 Jun;29(6):E37-46. doi: 10.1002/humu.20761. (http://www.ncbi.nlm.nih.gov/pubmed/18429043?dopt=Abstract)
- Schultz JM, Bhatti R, Madeo AC, Turriff A, Muskett JA, Zalewski CK, King KA, Ahmed ZM, Riazuddin S, Ahmad N, Hussain Z, Qasim M, Kahn SN, Meltzer MR, Liu XZ, Munisamy M, Ghosh M, Rehm HL, Tsilou ET, Griffith AJ, Zein WM, Brewer CC, Riazuddin S, Friedman TB. Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes. J Med Genet. 2011 Nov;48(11):767-75. doi: 10.1136/jmedgenet-2011-100262. Epub 2011 Sep 22. (http://www.ncbi.nlm.nih.gov/pubmed/21940737?dopt=Abstract)
- Siemens J, Kazmierczak P, Reynolds A, Sticker M, Littlewood-Evans A, Müller U. The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions. Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):14946-51. Epub 2002 Oct 29. (http://www.ncbi.nlm.nih.gov/pubmed/12407180?dopt=Abstract)
- Siemens J, Lillo C, Dumont RA, Reynolds A, Williams DS, Gillespie PG, Müller U. Cadherin 23 is a component of the tip link in hair-cell stereocilia. Nature. 2004 Apr 29;428(6986):950-5. Epub 2004 Mar 31. (http://www.ncbi.nlm.nih.gov/pubmed/15057245?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.