Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2

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dc.contributor.authorChristiansen, Michaelen_ZA
dc.contributor.authorHedley, Paula L.en_ZA
dc.contributor.authorTheilade, Julianeen_ZA
dc.contributor.authorStoevring, Birgitteen_ZA
dc.contributor.authorLeren, Trond P.en_ZA
dc.contributor.authorEschen, Oleen_ZA
dc.contributor.authorSørensen, Karina M.en_ZA
dc.contributor.authorTybjærg-Hansen, Anneen_ZA
dc.contributor.authorOusager, Lilian B.en_ZA
dc.contributor.authorPedersen, Lisbeth N.en_ZA
dc.contributor.authorFrikke-Schmidt, Ruthen_ZA
dc.contributor.authorAidt, Frederik H.en_ZA
dc.contributor.authorHansen, Michael G.en_ZA
dc.contributor.authorHansen, Jimen_ZA
dc.contributor.authorBloch Thomsen, Poul E.en_ZA
dc.contributor.authorToft, Egonen_ZA
dc.contributor.authorHenriksen, Finn L.en_ZA
dc.contributor.authorBundgaard, Henningen_ZA
dc.contributor.authorJensen, Henrik K.en_ZA
dc.contributor.authorKanters, Jorgen K.en_ZA
dc.date.accessioned2014-09-16T10:29:27Z
dc.date.available2014-09-16T10:29:27Z
dc.date.issued2014-03
dc.date.updated2014-04-03T07:36:54Z
dc.descriptionPlease cite as follows: Christiansen, M. et al. 2014. Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2. BMC Medical Genetics, 15(1):31, doi:10.1186/1471-2350-15-31.en_ZA
dc.descriptionThe original publication is available at http://www.biomedcentral.com/1471-2350/15/31en_ZA
dc.description.abstractBackground: 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&#8201;&gt;&#8201;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 &#8220;unrelated&#8221; 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.en_ZA
dc.description.versionPublishers' Versionen_ZA
dc.identifier.citationChristiansen, M. et al. 2014. Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2. BMC Medical Genetics, 15(1):31, doi:10.1186/1471-2350-15-31.en_ZA
dc.identifier.issn1471-2350 (online)en_ZA
dc.identifier.otherdoi:10.1186/1471-2350-15-31en_ZA
dc.identifier.urihttp://hdl.handle.net/10019.1/95561
dc.language.isoen_ZAen_ZA
dc.publisherBioMed Centralen_ZA
dc.rights.holderMichael Christiansen et al.; licensee BioMed Central Ltd.en_ZA
dc.subjectLong QT syndromeen_ZA
dc.subjectHeart -- Ventricles -- Abnormalitiesen_ZA
dc.subjectLong QT syndrome -- Genetic aspectsen_ZA
dc.titleMutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2en_ZA
dc.typeArticleen_ZA
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