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Article

A new mutation in the COL4A3 gene responsible for autosomal dominant Alport syndrome, which only generates hearing loss in some carriers.

European journal of medical genetics - 1 Jan 2015

Rosado Consolación, Bueno Elena, Fraile Pilar, García-Cosmes Pedro, González-Sarmiento Rogelio

Abstract excerpt

Bilateral sensorineural hearing loss is a characteristic feature of Alport syndrome, which is always linked to renal manifestations so they have a parallel evolution and prognosis, and deafness helps to identify the renal disease. We report a family that suffers an autosomal dominant Alport syndrome caused by a previously undescribed mutation in the COL4A3 gene, in which several members have hearing impairment as...

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Identifiers

PMID: 25450602
DOI: 10.1016/j.ejmg.2014.10.003

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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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