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Article

Large deletion in KCNQ1 identified in a family with Jervell and Lange-Nielsen syndrome.

Annals of laboratory medicine - 1 Sept 2014

Sung Ji Yeon, Bae Eun Jung, Park Seungman, Kim So Yeon, Hyun Ye Jin, Park Sung Sup, Seong Moon-Woo

Abstract excerpt

Long QT syndrome (LQTS) is a genetically heterogeneous disorder associated with sequence variations in more than 10 genes; in some cases, it is caused by large deletions or duplications among the main, known LQTS-associated genes. Here, we describe a 14-month-old Korean boy with congenital hearing loss and prolonged QT interval whose condition was clinically diagnosed as Jervell and Lange-Nielsen syndrome (JLNS),...

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Source

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Identifiers

PMID: 25187895
DOI: 10.3343/alm.2014.34.5.395
PMCID: PMC4151011

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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Large deletion in KCNQ1 identified in a family with Jervell and Lange-Nielsen syndrome.PMID 25187895Read ↗

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