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Article

An Interdomain KCNH2 Mutation Produces an Intermediate Long QT Syndrome.

Human mutation - 1 Aug 2015

Osterbur Marika L, Zheng Renjian, Marion Robert, Walsh Christine, McDonald Thomas V

Abstract excerpt

Hereditary long QT syndrome is caused by deleterious mutation in one of several genetic loci, including locus LQT2 that contains the KCNH2 gene (or hERG, human ether-a-go-go related gene), causing faulty cardiac repolarization. Here, we describe and characterize a novel mutation, p.Asp219Val in the hERG channel, identified in an 11-year-old male with syncope and prolonged QT interval. Genetic sequencing showed a...

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Source

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Identifiers

PMID: 25914329
DOI: 10.1002/humu.22805
PMCID: PMC4667707

Genes

KCNH2

Variants

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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