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We have identified CDH23 mutations as a genetic risk factor for both familial and sporadic pituitary adenoma.
an important contribution of CDH23 mutations to poslingual Sensorineural Hearing Loss
A new diagnosis of sector retinitis pigmentosa was found to have two novel compound heterozygous mutations in CDH23, including one missense (c.8530C > A; p.Pro2844Thr) and one splice-site (c.5820 + 5G > A) mutation.
Four (3.1 %) of 128 children carried two CDH23 mutant alleles, and SLC26A4 (zeige SLC26A4 ELISA Kits) and GJB2 (zeige GJB2 ELISA Kits) accounted for 18.0 and 17.2 %, respectively and showed profound nonsyndromic sensorineural hearing loss with minimal residual hearing.
The results revealed that CDH23 mutations are highly prevalent in patients with congenital high-frequency sporadic or recessively inherited hearing loss
Description of the spectrum of mutations in CDH23 in 374 families with autosomal recessive, non-syndromic hearing loss from India.
The results of this study confirm that CDH23 genetic variant may modify the susceptibility to noise-induced hearing loss development in humans
mutations in the CDH23 gene are one of the most important causes of non-syndromic hearing loss in East Asians.
Hearing loss was found to co-segregate with locus-specific STR (zeige STATH ELISA Kits) markers for CDH23 in 1 Pakistani family.
mutations of the CDH23 gene are an important cause of non-syndromic hearing loss.
Unlike other vertebrates, cdh23 is not detectable in zebrafish photoreceptors but instead expressed by a small subset of GABAergic amacrine cells.
Cdh23 is an essential tip link component required for hair-cell mechanotransduction
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. Alternative splice variants encoding different isoforms have been described.
, cadherin-like 23
, cadherin-related family member 23
, cadherin 23
, cadherin related 23