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Article

Jervell and Lange-Nielsen syndrome: novel compound heterozygous mutations in the KCNQ1 in a Korean family.

Journal of Korean medical science - 1 Oct 2010

Baek Jae Suk, Bae Eun Jung, Lee Sang Yun, Park Sung Sup, Kim So Yeon, Jung Kyu Nam, Noh Chung Il

Abstract excerpt

The Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive syndrome characterized by congenital deafness and cardiac phenotype (QT prolongation, ventricular arrhythmias, and sudden death). JLNS has been shown to occur due to homozygous mutation in KCNQ1 or KCNE1. There have been a few clinical case reports on JLNS in Korea; however, these were not confirmed by a genetic study. We identified compound...

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Identifiers

PMID: 20890437
DOI: 10.3346/jkms.2010.25.10.1522
PMCID: PMC2946666

Genes

KCNQ1

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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