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

rs10762481 in CDH23 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs111033271 in CDH23 gene and Deafness, Autosomal Recessive 12 PMID 15353998 2004 Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).

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

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

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

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

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.

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 21940737 2011 Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.

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 24618850 2014 Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.

PMID 26264712 2015 Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population.

PMID 23967202 2013 Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.

rs750803248 in CDH23 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.

rs372388344 in CDH23 gene and PITUITARY ADENOMA 5, MULTIPLE TYPES PMID 28413019 2017 Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary Adenomas.

rs181255269 in CDH23 gene and Retinitis Pigmentosa PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs111033270 in CDH23 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 15660226 2005 Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.

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

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

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

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

PMID 15537665 2005 Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.

PMID 23451239 2013 Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells.

rs111033271 in CDH23 gene and USHER SYNDROME, TYPE IIA PMID 12522556 2003 Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.

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

PMID 15353998 2004 Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).

rs375907609 in CDH23 gene and Usher Syndrome, Type I PMID 21569298 2011 Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.