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Article

A novel mutation in the KCNH2 gene associated with short QT syndrome.

Journal of molecular and cellular cardiology - 1 Mar 2011

Sun Yaxun, Quan Xiao-Qing, Fromme Samantha, Cox Robert H, Zhang Ping, Zhang Li, Guo Donglin, Guo Jihong, Patel Chinmay, Kowey Peter R, Yan Gan-Xin

Abstract excerpt

A gain of function mutation N588K in the KCNH2 gene that encodes HERG channels has been shown to underlie the SQT1 form of short QT syndrome (SQTS). We describe a different mutation in the KCNH2 gene in a Chinese family with clinical evidence of SQTS. A Chinese family with a markedly short QT interval (QTc=316 ± 9 ms, n=4) and a strong family history of sudden death was investigated. Analysis of candidate genes...

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Source

Identifiers

PMID: 21130771
DOI: 10.1016/j.yjmcc.2010.11.017

Genes

KCNH2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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