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Article

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

Human mutation - 1 Mar 2008

Becirovic Elvir, Ebermann Inga, Nagy Ditta, Zrenner Eberhart, Seeliger Mathias Wolfgang, Bolz Hanno Jörn

Abstract excerpt

Usher syndrome (USH) is an autosomal recessive condition characterized by sensorineural hearing loss, vestibular dysfunction, and visual impairment due to retinitis pigmentosa. Truncating mutations in the cadherin-23 gene (CDH23) result in Usher syndrome type 1D (USH1D), whereas missense mutations affecting strongly conserved motifs of the CDH23 protein cause non-syndromic deafness (DFNB12). Four missense...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18273900
DOI: 10.1002/humu.9526

Genes

CDH23

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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