Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Cadherin-23

The CDH23 gene encodes cadherin, ein calcium dependent intercellular adhesion protein. Allelic mutations are responsible for Usher syndrome 1D, autosomal recessive deafness DFNB12, and familial pituitary adenomas.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Usher syndrome 1D/F
CDH23
PCDH15
Familial and sporadic pituitary adenomas
CDH23
Usher syndrome 1D
CDH23
Autosomal recesive deafness 12
ATP2B2
CDH23

References:

1.

Schultz JM et. al. (2005) Modification of human hearing loss by plasma-membrane calcium pump PMCA2.

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2.

Zheng QY et. al. (2005) Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.

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3.

Kazmierczak P et. al. (2007) Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells.

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4.

Sotomayor M et. al. (2012) Structure of a force-conveying cadherin bond essential for inner-ear mechanotransduction.

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5.

Marres HA et. al. (1989) Autosomal recessive nonsyndromal profound childhood deafness in a large pedigree. Audiometric features of the affected persons and the obligate carriers.

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6.

Bork JM et. al. (2001) Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.

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7.

Di Palma F et. al. (2001) Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D.

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8.

Bolz H et. al. (2001) Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.

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9.

von Brederlow B et. al. (2002) Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.

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10.

Astuto LM et. al. (2002) CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

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11.

Siemens J et. al. (2002) The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions.

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12.

Boëda B et. al. (2002) Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle.

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13.

de Brouwer AP et. al. (2003) Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.

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14.

Noben-Trauth K et. al. (2003) Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss.

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15.

Hawkins RD et. al. (2004) The developmental genetics of auditory hair cells.

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16.

Wagatsuma M et. al. (2007) Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.

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17.

Schwander M et. al. (2009) A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells.

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18.

Sotomayor M et. al. (2010) Structural determinants of cadherin-23 function in hearing and deafness.

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19.

Bahloul A et. al. (2010) Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids.

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20.

Bell CJ et. al. (2011) Carrier testing for severe childhood recessive diseases by next-generation sequencing.

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21.

Schultz JM et. al. (2011) Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.

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22.

Zhang Q et. al. (2017) Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary Adenomas.

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Update: Sept. 26, 2018