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Article

Flat threshold and mid-frequency hearing impairment in a Dutch DFNA8/12 family with a novel mutation in TECTA. Some evidence for protection of the inner ear.

Audiology & neuro-otology - 1 Jan 2009

de Heer A R, Pauw R J, Huygen P L M, Collin R W J, Kremer H, Cremers C W R J

Abstract excerpt

A novel TECTA mutation (c.5331G>A) was identified affecting alpha-tectorin just N-terminally of the zona pellucida domain in a Dutch family with nonsyndromic autosomal dominant sensorineural hearing impairment. The present mutation is clearly associated with a flat-threshold type of hearing impai...

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Source

Identifiers

PMID: 19005249
DOI: 10.1159/000171477

Genes

TECTA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19005249-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Flat threshold and mid-frequency hearing impairment in a Dutch DFNA8/12 family with a novel mutation in TECTA. Some evidence for protection of the inner ear.PMID 19005249Read ↗

A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation.Semantic proximity Read ↗

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Clinical relevance of the TECTA c.6183G>T variant identified in a family with autosomal dominant hearing loss: a case report.Semantic proximity Read ↗

Novel TECTA mutations identified in stable sensorineural hearing loss and their clinical implications.Semantic proximity Read ↗

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer.Semantic proximity Read ↗

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Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment.Semantic proximity Read ↗

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