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Article

A novel stop-gain pathogenic variant in the KCNQ1 gene causing long QT syndrome 1.

European journal of medical research - 12 Jan 2023

Kalayinia Samira, Dalili Mohammad, Pourirahim Maryam, Maleki Majid, Mahdieh Nejat

Abstract excerpt

BACKGROUND: Inherited primary arrhythmias, such as long QT (LQT) syndromes, are electrical abnormalities of the heart mainly due to variants in 3 genes. We herein describe a novel stop-gain pathogenic variant in the KCNQ1 gene in an Iranian child with LQT syndrome 1. METHODS: The patient and his family underwent clinical evaluation, electrocardiographic Holter monitoring, and whole-exome sequencing. Sanger...

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Identifiers

PMID: 36635780
DOI: 10.1186/s40001-023-00984-0
PMCID: PMC9835262

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