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Article

An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome.

Progress in biophysics and molecular biology - 1 Jan 2000

Bhuiyan Zahurul A, Momenah Tarek S, Amin Ahmad S, Al-Khadra Ayman S, Alders Marielle, Wilde Arthur A M, Mannens Marcel M A M

Abstract excerpt

Romano-Ward syndrome (RWs) and Jervell and Lange-Nielsen Syndrome (JLNs) are two inherited arrhythmia disorders caused by monoallelic or bi-allelic mutations, respectively, in the KCNQ1 or KCNE1 genes. Both disorders could cause Long QT syndrome either without deafness (RWs), or with deafness (JLNs). We have performed clinical, molecular and functional investigation in two consanguineous Arabian families with...

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Source

Identifiers

PMID: 19027783
DOI: 10.1016/j.pbiomolbio.2008.10.004

Genes

KCNQ1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome.PMID 19027783Read ↗

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The mutational spectrum of Jervell and Lange-Nielsen syndrome: insights from highly consanguineous familiesSemantic proximity Read ↗

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