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Article

Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity.

The Journal of clinical investigation - 1 Mar 2018

Chai Sam, Wan Xiaoping, Ramirez-Navarro Angelina, Tesar Paul J, Kaufman Elizabeth S, Ficker Eckhard, George Alfred L, Deschênes Isabelle

Abstract excerpt

Congenital long QT syndrome (LQTS) is an inherited channelopathy associated with life-threatening arrhythmias. LQTS type 2 (LQT2) is caused by mutations in KCNH2, which encodes the potassium channel hERG. We hypothesized that modifier genes are partly responsible for the variable phenotype severity observed in some LQT2 families. Here, we identified contributors to variable expressivity in an LQT2 family by using...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Potassium Channels, Tandem Pore Domain

Source

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Identifiers

PMID: 29431731
DOI: 10.1172/JCI94996
PMCID: PMC5824853

Genes

REM2
KCNH2
KCNK17

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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