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Article

Compound heterozygosity for mutations Asp611-->Tyr in KCNQ1 and Asp609-->Gly in KCNH2 associated with severe long QT syndrome.

Clinical science (London, England : 1979) - 1 Feb 2005

Yamaguchi Masato, Shimizu Masami, Ino Hidekazu, Terai Hidenobu, Hayashi Kenshi, Kaneda Tomoya, Mabuchi Hiroshi, Sumita Ryo, Oshima Tohru, Hoshi Naoto, Higashida Haruhiro

Abstract excerpt

LQTS (long QT syndrome) is an inherited cardiac disorder characterized by prolongation of QT interval, torsades de pointes and sudden death. We have identified two heterozygous missense mutations in the KCNQ1 and KCNH2 (also known as HERG) genes [Asp611-->Tyr (D611Y) in KCNQ1 and Asp609-->Gly (D609G) in KCNH2] in a 2-year-old boy with LQTS. The aim of the present study was to characterize the contributions of the...

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Source

Identifiers

PMID: 15500450
DOI: 10.1042/CS20040220

Genes

KCNH2
KCNQ1

Variants

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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