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Article

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

European journal of human genetics : EJHG - 1 Dec 2008

Collin Rob W J, de Heer Anne-Martine R, Oostrik Jaap, Pauw Robert-Jan, Plantinga Rutger F, Huygen Patrick L, Admiraal Ronald, de Brouwer Arjan P M, Strom Tim M, Cremers Cor W R J, Kremer Hannie

Abstract excerpt

Autosomal dominant hearing loss is highly heterogeneous. Hearing impairment mainly involves the mid-frequencies (500-2000 Hz) in only a low percentage of the cases. In a Dutch family with autosomal dominant mid-frequency/flat hearing loss, genome-wide SNP analysis combined with fine mapping using microsatellite markers mapped the defect to the DFNA8/12 locus, with a maximum two-point LOD score of 3.52. All exons...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18575463
DOI: 10.1038/ejhg.2008.110

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.

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Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer.PMID 18575463Read ↗

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

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