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Article

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

Human mutation - 1 Jun 2008

Oshima A, Jaijo T, Aller E, Millan J M, Carney C, Usami S, Moller C, Kimberling W J

Abstract excerpt

Mutations in the human gene encoding cadherin23 (CDH23) cause Usher syndrome type 1D (USH1D) and nonsyndromic hearing loss. Individuals with Usher syndrome type I have profound congenital deafness, vestibular areflexia and usually begin to exhibit signs of RP in early adolescence. In the present...

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Identifiers

PMID: 18429043
DOI: 10.1002/humu.20761
PMCID: PMC2399895

Genes

CDH23

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18429043-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.Semantic proximity Read ↗

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.Semantic proximity Read ↗

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Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing.Semantic proximity Read ↗

Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss.Semantic proximity Read ↗

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The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.Semantic proximity Read ↗

Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss.Semantic proximity Read ↗

A Novel Cadherin 23 Variant for Hereditary Hearing Loss Reveals Additional Support for a DFNB12 Nonsyndromic Phenotype of CDH23.Semantic proximity Read ↗

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.Semantic proximity Read ↗

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