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Article

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

Nederlands tijdschrift voor geneeskunde - 3 Mar 2007

Cremers C W R J, Plantinga R F, Kremer H

Abstract excerpt

An autosomal dominant inherited disorder known as DFNA8/12 causes mild-to-moderate/severe mid-frequency or mild-to-severe progressive high-frequency sensorineural hearing impairment. The causative gene, TECTA, encodes alpha-tectorin, the most important non-collagenous component of the tectorial membrane in the cochlea and the otolith membrane in the maculae of the vestibular system. Mutations in the zona...

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Source

Identifiers

PMID: 17373394

Genes

TECTA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

[From gene to disease; DFNA8/12, an autosomal dominant inherited bowl-shaped sensorineural hearing impairment].PMID 17373394Read ↗

Identification of a Novel TECTA mutation in a Chinese DFNA8/12 family with prelingual progressive sensorineural hearing impairment.Semantic proximity Read ↗

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 ↗

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

Mutation in the zonadhesin-like domain of alpha-tectorin associated with autosomal dominant non-syndromic hearing loss.Semantic proximity Read ↗

Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness.Semantic proximity Read ↗

Association of Clinical Features With Mutation of TECTA in a Family With Autosomal Dominant Hearing LossSemantic proximity Read ↗

<i>TECTB</i> Variants Reveal Tectorial Membrane Vulnerability in Dominant Non-Syndromic Hearing LossSemantic proximity Read ↗

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

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

A novel TECTA mutation causes ARNSHL.Semantic proximity Read ↗

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

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