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Article

Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss.

Human mutation - 1 Jan 1999

Talebizadeh Z, Kelley P M, Askew J W, Beisel K W, Smith S D

Abstract excerpt

Analysis of genotyping of a five-generation American family with nonsyndromic dominant progressive hearing loss indicated linkage to the DFNA2 locus on chromosome 1p34. This kindred consists of 170 individuals, of which 51 are affected. Pure tone audiograms, medical records, and blood samples were obtained from 36 family members. Linkage analysis with five microsatellite markers spanning the region around DFNA2...

Read the complete abstract on PubMed

Topics

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Share to Chromosomes, Human, Pair 1
Share to Genes, Dominant
Share to Genes, Recessive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss, Sensorineural

Share to KCNQ Potassium Channels

Share to Potassium Channels

Share to Potassium Channels, Voltage-Gated

Share to Protein Structure, Secondary

Source

Identifiers

PMID: 10571947
DOI: 10.1002/(SICI)1098-1004(199912)14:6<493::AID-HUMU8>3.0.CO;2-P

Genes

KCNQ4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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