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Article

Alpha-tectorin involvement in hearing disabilities: one gene--two phenotypes.

Human genetics - 1 Sept 1999

Balciuniene J, Dahl N, Jalonen P, Verhoeven K, Van Camp G, Borg E, Pettersson U, Jazin E E

Abstract excerpt

The human alpha-tectorin (TECTA) gene has recently been cloned and proposed to be involved in autosomal dominant non-syndromic hearing impairment (NSHI) in two families linked to the DFNA12 locus. We have studied a Swedish pedigree with autosomal dominant NSHI with possible digenic inheritance of the disease, involving locus DFNA12 in chromosome 11 and locus DFNA2 in chromosome 1. Mutation analysis of the TECTA...

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Source

Identifiers

PMID: 10987647
DOI: 10.1007/s004390051091

Genes

TECTA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Alpha-tectorin involvement in hearing disabilities: one gene--two phenotypes.PMID 10987647Read ↗

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

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

A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families.Semantic proximity Read ↗

A novel splicing variant in TECTA associated with prelingual autosomal dominant nonsyndromic hearing loss via dominant-negative effect.Semantic proximity Read ↗

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

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