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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.

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