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CDH23 is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins.
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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 (show SLC26A4 Antibodies) and GJB2 (show GJB2 Antibodies) 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 (show STATH Antibodies) markers for CDH23 in 1 Pakistani family.
mutations of the CDH23 gene are an important cause of non-syndromic hearing loss.
Large protein assemblies formed by multivalent interactions between cadherin23 and harmonin (show USH1C Antibodies) suggest a stable anchorage structure at the tip link of stereocilia
Despite that the Ahl allele of Cdh23 had been implicated with ARHI in mice, we found no positive association of the CDH23 tag SNP in intron 7 with ARHI in Han Chinese.
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