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Article

A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation.

Journal of human genetics - 1 Jan 2006

Kamada Fumiaki, Kure Shigeo, Kudo Takayuki, Suzuki Yoichi, Oshima Takeshi, Ichinohe Akiko, Kojima Kanako, Niihori Tetsuya, Kanno Junko, Narumi Yoko, Narisawa Ayumi, Kato Kumi, Aoki Yoko, Ikeda Katsuhisa, Kobayashi Toshimitsu, Matsubara Yoichi

Abstract excerpt

Autosomal-dominant, nonsyndromic hearing impairment is clinically and genetically heterogeneous. We encountered a large Japanese pedigree in which nonsyndromic hearing loss was inherited in an autosomal-dominant fashion. A genome-wide linkage study indicated linkage to the DFNA2 locus on chromosome 1p34. Mutational analysis of KCNQ4 encoding a potassium channel revealed a novel one-base deletion in exon 1,...

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Source

Identifiers

PMID: 16596322
DOI: 10.1007/s10038-006-0384-7

Genes

KCNQ4

Variants

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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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