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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2
BMC Medical Genetics, Volume 15, No. 1, Article 31, Year 2014
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Description
Background: Long 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. Methods: We 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. Results: Twenty-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.Conclusion: The 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. © 2014 Christiansen et al.; licensee BioMed Central Ltd.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC4007532/bin/1471-2350-15-31-S1.doc
Authors & Co-Authors
Christiansen, Michael
Denmark, Copenhagen
Statens Serum Institut
Hedley, P. L.
Denmark, Copenhagen
Statens Serum Institut
South Africa, Stellenbosch
Stellenbosch University
Theilade, Juliane
Denmark, Copenhagen
Københavns Universitet
Stoevring, Birgitte
Denmark, Copenhagen
Statens Serum Institut
Leren, Trond Paul
Norway, Oslo
Rikshospitalet-radiumhospitalet hf
Eschen, Ole
Denmark, Aalborg
Aalborg University
Sørensen, Karina M.
Denmark, Copenhagen
Statens Serum Institut
Tybjaerg-Hansen, Anne
Denmark, Copenhagen
Københavns Universitet
Ousager, Lilian Bomme
Denmark, Odense
Odense Universitetshospital
Pedersen, Lisbeth N.
Denmark, Aarhus
Aarhus Universitetshospital
Frikke- Schmidt, Ruth
Denmark, Copenhagen
Københavns Universitet
Aidt, Frederik Heurlin
Denmark, Copenhagen
Statens Serum Institut
Hansen, Michael G.
Unknown Affiliation
Hansen, Jim
Denmark, Copenhagen
Københavns Universitet
Bloch-Thomsen, Poul Erik
Denmark, Copenhagen
Københavns Universitet
Toft, Egon
Denmark, Aalborg
Aalborg University
Henriksen, Finn L.
Denmark, Odense
Odense Universitetshospital
Bundgaard, Henning
Denmark, Copenhagen
Københavns Universitet
Jensen, Henrik Kjœrulf
Denmark, Aarhus
Aarhus Universitetshospital
Kanters, Jörgen Kim
Denmark, Copenhagen
Københavns Universitet
Denmark, Copenhagen
Danmarks Grundforskningsfond
Statistics
Citations: 20
Authors: 20
Affiliations: 8
Identifiers
Doi:
10.1186/1471-2350-15-31
Research Areas
Cancer
Genetics And Genomics
Noncommunicable Diseases
Study Design
Cross Sectional Study