ArticleBMC medical genetics2014
Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.
Article in BMC medical genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 19 citations in OpenAlex.
- Functional Profiling ofCirculation. Genomic and precision medicine · 2025Article
- Associations Between Potassium Channel Genes and the Occurrence of Palpitations in Women Prior to Breast Cancer Surgery.Seminars in oncology nursing · 2025Article
- Spectrum of genetic variants detected in children tested for long QT syndrome.BMC cardiovascular disorders · 2025Article
- A novel association between sinus node dysfunction and anHeartRhythm case reports · 2023Article
- Case Report: Prenatal Whole-Exome Sequencing Identified a Novel Nonsense Mutation of theFrontiers in genetics · 2022Article
- A standardised hERG phenotyping pipeline to evaluate KCNH2 genetic variant pathogenicity.Clinical and translational medicine · 2021Article
- Estimating the Posttest Probability of Long QT Syndrome Diagnosis for RareCirculation. Genomic and precision medicine · 2021Article
- Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.Human mutation · 2019Article
- Re-evaluating pathogenicity of variants associated with the long QT syndrome.Journal of cardiovascular electrophysiology · 2018Article
- MicroRNAs in cardiac arrhythmia: DNA sequence variation of MiR-1 and MiR-133A in long QT syndrome.Scandinavian journal of clinical and laboratory investigation · 2014Article
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Authors and funding
20 authors at 9 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundLong QT syndrome (LQTS) is a cardiac ion channelopathy which presents clinically with palpitations, syncope or sudden death. More than 700 LQTS-causing mutations have been identified in 13 genes, all of which encode proteins involved in the execution of the cardiac action potential. The most frequently affected genes, covering > 90% of cases, are KCNQ1, KCNH2 and SCN5A.
methodsWe describe 64 different mutations in 70 unrelated Danish families using a routine five-gene screen, comprising KCNQ1, KCNH2 and SCN5A as well as KCNE1 and KCNE2.
resultsTwenty-two mutations were found in KCNQ1, 28 in KCNH2, 9 in SCN5A, 3 in KCNE1 and 2 in KCNE2. Twenty-six of these have only been described in the Danish population and 18 are novel. One double heterozygote (1.4% of families) was found. A founder mutation, p.F29L in KCNH2, was identified in 5 "unrelated" families. Disease association, in 31.2% of cases, was based on the type of mutation identified (nonsense, insertion/deletion, frameshift or splice-site). Functional data was available for 22.7% of the missense mutations. None of the mutations were found in 364 Danish alleles and only three, all functionally characterised, were recorded in the Exome Variation Server, albeit at a frequency of < 1:1000.
conclusionThe genetic etiology of LQTS in Denmark is similar to that found in other populations. A large founder family with p.F29L in KCNH2 was identified. In 48.4% of the mutations disease causation was based on mutation type or functional analysis.
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