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Article

A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism.

American journal of medical genetics. Part A - 1 Mar 2009

Stockley Tracy L, Mendoza-Londono Roberto, Propst Evan J, Sodhi Sandi, Dupuis Lucie, Papsin Blake C

Abstract excerpt

Branchio-oto-renal syndrome is a heterogeneous disorder inherited in an autosomal dominant pattern, characterized by branchial arch abnormalities, hearing loss and renal abnormalities, with mutations in EYA1 reported in 30-70% of patients. We have applied a molecular testing strategy of sequencing of the complete coding region/flanking intronic regions and multiple ligation probe amplification analysis of EYA1 to...

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Identifiers

PMID: 19206155
DOI: 10.1002/ajmg.a.32679

Genes

EYA1

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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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