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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 study, we carried out the mutation analysis in all 69 exons of the CDH23 gene in 56 Usher type 1 probands already...

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Source

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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 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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

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

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