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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...

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Methodology Data sources Editorial policy Privacy 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 4 Sept 2026. Prepared record publication-11140949-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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

Jervell and Lange-Nielsen syndrome: A Norwegian perspectiveSemantic proximity Read ↗

A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome.Semantic proximity Read ↗

A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndromeSemantic proximity Read ↗

Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange‐Nielsen Syndrome and Romano‐Ward SyndromeSemantic proximity Read ↗

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

Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden.Semantic proximity Read ↗

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

Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome.Semantic proximity Read ↗

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

A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndromeSemantic proximity Read ↗

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

De novo mutation in the KCNQ1 gene causal to Jervell and Lange-Nielsen syndrome.Semantic proximity Read ↗

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