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Article

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

Journal of the Association for Research in Otolaryngology : JARO - 1 Jun 2006

Plantinga Rutger F, de Brouwer Arjan P M, Huygen Patrick L M, Kunst Henricus P M, Kremer Hannie, Cremers Cor W R J

Abstract excerpt

A novel TECTA mutation, p.R1890C, was found in a Dutch family with nonsyndromic autosomal dominant sensorineural hearing impairment. In early life, presumably congenital, hearing impairment occurred in the midfrequency range, amounting to about 40 dB at 1 kHz. Speech recognition was good with all phoneme recognition scores exceeding 90%. An intact horizontal vestibuloocular reflex was found in four tested...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 16718611
DOI: 10.1007/s10162-006-0033-z
PMCID: PMC2504577

Genes

TECTA

Variants

Provenance

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.

Related research

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Research trail→

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A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation.PMID 16718611Read ↗

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

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.Semantic proximity Read ↗

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

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

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

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

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

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

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Splice-altering variant in TECTA as a cause of hearing loss DFNA8/12Semantic proximity Read ↗

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