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Article

A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations.

Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology - 1 Jan 2004

Pfister Markus, Thiele Holger, Van Camp Guy, Fransen Erik, Apaydin Fazil, Aydin Omer, Leistenschneider Peter, Devoto Marcella, Zenner Hans-Peter, Blin Nikolaus, Nürnberg Peter, Ozkarakas Haluk, Kupka Susan

Abstract excerpt

BACKGROUND: Alpha-tectorin is a noncollagenous component of the tectorial membrane which plays an essential role in auditory transduction. In several DFNA12 families mutations in TECTA, the gene encoding alpha-tectorin, were shown to cause hearing impairment (HI) with different phenotypes depending on the location of the mutation. METHODS/RESULTS: Here we report a Turkish family displaying autosomal dominant...

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Identifiers

PMID: 15319541
DOI: 10.1159/000080347

Genes

TECTA

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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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A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations.PMID 15319541Read ↗

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DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.Semantic proximity Read ↗

[From gene to disease; DFNA8/12, an autosomal dominant inherited bowl-shaped sensorineural hearing impairment].Semantic proximity Read ↗

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