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Article

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

Nature genetics - 1 Jan 2001

Bolz H, von Brederlow B, Ramírez A, Bryda E C, Kutsche K, Nothwang H G, Seeliger M, del C-Salcedó Cabrera M, Vila M C, Molina O P, Gal A, Kubisch C

Abstract excerpt

Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss, vestibular dysfunction and visual impairment due to early onset retinitis pigmentosa (RP). So far, six loci (USH1A-USH1F) have been mapped, but only two USH1 genes have been identified: MYO7A for USH1B and the gene encoding harmonin for USH1C. We identified a Cuban pedigree linked to the locus...

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Source

Identifiers

PMID: 11138009
DOI: 10.1038/83667

Genes

CDH23

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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

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Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.Semantic proximity Read ↗

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