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Article

KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.

Journal of medical genetics - 1 Jun 2017

Kapplinger Jamie D, Erickson Anders, Asuri Sirisha, Tester David J, McIntosh Sarah, Kerr Charles R, Morrison Julie, Tang Anthony, Sanatani Shubhayan, Arbour Laura, Ackerman Michael J

Abstract excerpt

BACKGROUND: Variable expressivity and incomplete penetrance between individuals with identical long QT syndrome (LQTS) causative mutations largely remain unexplained. Founder populations provide a unique opportunity to explore modifying genetic effects. We examined the role of a novel synonymous KCNQ1 p.L353L variant on the splicing of exon 8 and on heart rate corrected QT interval (QTc) in a population known to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28264985
DOI: 10.1136/jmedgenet-2016-104153
PMCID: PMC5502312

Genes

KCNQ1
KCNH2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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