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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Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2. / Christiansen, Michael; Hedley, Paula L.; Theilade, Juliane; Stoevring, Birgitte; Leren, Trond P.; Eschen, Ole; Sørensen, Karina M.; Tybjærg-Hansen, Anne; Ousager, Lilian B.; Pedersen, Lisbeth N.; Frikke-Schmidt, Ruth; Aidt, Frederik H.; Hansen, Michael G; Hansen, Jim; Bloch Thomsen, Poul E; Toft, Egon; Henriksen, Finn L; Bundgaard, Henning; Jensen, Henrik K; Kanters, Jørgen K.

I: BMC Medical Genetics, Bind 15, 31, 2014.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

Harvard

Christiansen, M, Hedley, PL, Theilade, J, Stoevring, B, Leren, TP, Eschen, O, Sørensen, KM, Tybjærg-Hansen, A, Ousager, LB, Pedersen, LN, Frikke-Schmidt, R, Aidt, FH, Hansen, MG, Hansen, J, Bloch Thomsen, PE, Toft, E, Henriksen, FL, Bundgaard, H, Jensen, HK & Kanters, JK 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, bind 15, 31. https://doi.org/10.1186/1471-2350-15-31

APA

Christiansen, M., Hedley, P. L., Theilade, J., Stoevring, B., Leren, T. P., Eschen, O., ... Kanters, J. K. (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, [31]. https://doi.org/10.1186/1471-2350-15-31

Vancouver

Christiansen M, Hedley PL, Theilade J, Stoevring B, Leren TP, Eschen O o.a. Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2. BMC Medical Genetics. 2014;15. 31. https://doi.org/10.1186/1471-2350-15-31

Author

Christiansen, Michael ; Hedley, Paula L. ; Theilade, Juliane ; Stoevring, Birgitte ; Leren, Trond P. ; Eschen, Ole ; Sørensen, Karina M. ; Tybjærg-Hansen, Anne ; Ousager, Lilian B. ; Pedersen, Lisbeth N. ; Frikke-Schmidt, Ruth ; Aidt, Frederik H. ; Hansen, Michael G ; Hansen, Jim ; Bloch Thomsen, Poul E ; Toft, Egon ; Henriksen, Finn L ; Bundgaard, Henning ; Jensen, Henrik K ; Kanters, Jørgen K. / Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2. I: BMC Medical Genetics. 2014 ; Bind 15.

Bibtex

@article{2c66832eb7994fe59b66bbaee25e62b0,
title = "Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2",
abstract = "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.",
keywords = "Case-Control Studies, DNA Mutational Analysis, Denmark, Ether-A-Go-Go Potassium Channels, Female, Founder Effect, Genetic Association Studies, Genetic Predisposition to Disease, Haplotypes, Humans, KCNQ1 Potassium Channel, Long QT Syndrome, Male, Microsatellite Repeats, Mutation, Missense, NAV1.5 Voltage-Gated Sodium Channel, Potassium Channels, Voltage-Gated",
author = "Michael Christiansen and Hedley, {Paula L.} and Juliane Theilade and Birgitte Stoevring and Leren, {Trond P.} and Ole Eschen and S{\o}rensen, {Karina M.} and Anne Tybj{\ae}rg-Hansen and Ousager, {Lilian B.} and Pedersen, {Lisbeth N.} and Ruth Frikke-Schmidt and Aidt, {Frederik H.} and Hansen, {Michael G} and Jim Hansen and {Bloch Thomsen}, {Poul E} and Egon Toft and Henriksen, {Finn L} and Henning Bundgaard and Jensen, {Henrik K} and Kanters, {J{\o}rgen K.}",
year = "2014",
doi = "10.1186/1471-2350-15-31",
language = "English",
volume = "15",
journal = "B M C Medical Genetics",
issn = "1471-2350",
publisher = "BioMed Central Ltd.",

}

RIS

TY - JOUR

T1 - Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2

AU - Christiansen, Michael

AU - Hedley, Paula L.

AU - Theilade, Juliane

AU - Stoevring, Birgitte

AU - Leren, Trond P.

AU - Eschen, Ole

AU - Sørensen, Karina M.

AU - Tybjærg-Hansen, Anne

AU - Ousager, Lilian B.

AU - Pedersen, Lisbeth N.

AU - Frikke-Schmidt, Ruth

AU - Aidt, Frederik H.

AU - Hansen, Michael G

AU - Hansen, Jim

AU - Bloch Thomsen, Poul E

AU - Toft, Egon

AU - Henriksen, Finn L

AU - Bundgaard, Henning

AU - Jensen, Henrik K

AU - Kanters, Jørgen K.

PY - 2014

Y1 - 2014

N2 - 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.

AB - 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.

KW - Case-Control Studies

KW - DNA Mutational Analysis

KW - Denmark

KW - Ether-A-Go-Go Potassium Channels

KW - Female

KW - Founder Effect

KW - Genetic Association Studies

KW - Genetic Predisposition to Disease

KW - Haplotypes

KW - Humans

KW - KCNQ1 Potassium Channel

KW - Long QT Syndrome

KW - Male

KW - Microsatellite Repeats

KW - Mutation, Missense

KW - NAV1.5 Voltage-Gated Sodium Channel

KW - Potassium Channels, Voltage-Gated

U2 - 10.1186/1471-2350-15-31

DO - 10.1186/1471-2350-15-31

M3 - Journal article

C2 - 24606995

VL - 15

JO - B M C Medical Genetics

JF - B M C Medical Genetics

SN - 1471-2350

M1 - 31

ER -

ID: 117087680