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Article

Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen.

Human genetics - 1 Nov 2000

Tyson J, Tranebjaerg L, McEntagart M, Larsen L A, Christiansen M, Whiteford M L, Bathen J, Aslaksen B, Sørland S J, Lund O, Pembrey M E, Malcolm S, Bitner-Glindzicz M

Abstract excerpt

Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive syndrome characterised by profound congenital sensorineural deafness and prolongation of the QT interval on the electrocardiogram, representing abnormal ventricular repolarisation. In a study of ten British and Norwegian families with JLNS, we have identified all of the mutations in the KCNQ1 gene, including two that are novel. Of the nine...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11140949
DOI: 10.1007/s004390000402

Genes

KCNQ1

Provenance

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.

Related research

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Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen.PMID 11140949Read ↗

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Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome).Semantic proximity Read ↗

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Novel combinations of variations in KCNQ1 were associated with patients with long QT syndrome or Jervell and Lange-Nielsen syndrome.Semantic proximity Read ↗

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