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Article

Allelic Complexity in Long QT Syndrome: A Family-Case Study.

International journal of molecular sciences - 27 Jul 2017

Zullo Alberto, Frisso Giulia, Detta Nicola, Sarubbi Berardo, Romeo Emanuele, Cordella Angela, Vanoye Carlos G, Calabrò Raffaele, George Alfred L, Salvatore Francesco

Abstract excerpt

Congenital long QT syndrome (LQTS) is associated with high genetic and allelic heterogeneity. In some cases, more than one genetic variant is identified in the same (compound heterozygosity) or different (digenic heterozygosity) genes, and subjects with multiple pathogenic mutations may have a more severe disease. Standard-of-care clinical genetic testing for this and other arrhythmia susceptibility syndromes...

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Source

Open in PubMed Open full text

Identifiers

PMID: 28749435
DOI: 10.3390/ijms18081633
PMCID: PMC5578023

Genes

KCNH2
KCNQ1

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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