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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

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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, Thomsen, PEB, 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' B M C Medical Genetics, bind 15, s. 31. https://doi.org/10.1186/1471-2350-15-31

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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 ; Thomsen, Poul Erik Bloch ; 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: B M C Medical Genetics. 2014 ; Bind 15. s. 31.

Bibtex

@article{4e54150f6f3d4459a3be09f2c535e193,
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 Thomsen, {Poul Erik Bloch} 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",
pages = "31",
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 - Thomsen, Poul Erik Bloch

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

VL - 15

SP - 31

JO - B M C Medical Genetics

JF - B M C Medical Genetics

SN - 1471-2350

ER -

ID: 44293439