Gene: CDH23

Alternate names for this Gene: CDHR23|PITA5|USH1D

Gene Summary: This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described.

Gene is located in Chromosome: 10

Location in Chromosome : 10q22.1

Description of this Gene: cadherin related 23

Type of Gene: protein-coding

Gene: C10orf105

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 10

Location in Chromosome : 10q22.1

Description of this Gene: chromosome 10 open reading frame 105

Type of Gene: protein-coding

rs121908351 in CDH23;C10orf105 gene and Deafness, Autosomal Recessive 12 PMID 11090341 2001 Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.

PMID 12522556 2003 Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.

PMID 16679490 2006 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%.

PMID 12075507 2002 CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

PMID 15829536 2005 Modification of human hearing loss by plasma-membrane calcium pump PMCA2.

PMID 22899989 2012 Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.

PMID 24767429 2014 Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing.

PMID 17850630 2007 Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.

rs866435331 in CDH23;C10orf105 gene and Multiple congenital anomalies PMID 11138009 2001 Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.

PMID 11090341 2001 Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.

rs121908347 in CDH23;C10orf105 gene and USHER SYNDROME, TYPE ID PMID 16679490 2006 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%.

PMID 18429043 2008 Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.

PMID 11138009 2001 Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.

PMID 12075507 2002 CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

PMID 15660226 2005 Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.

PMID 21697857 2011 Clinical utility gene card for: Usher syndrome.