Forskning
Udskriv Udskriv
Switch language
Rigshospitalet - en del af Københavns Universitetshospital
Udgivet

High prevalence of genetic variants previously associated with Brugada syndrome in new exome data

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Clopidogrel, prasugrel, and ticagrelor for all-comers with ST-segment elevation myocardial infarction

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Implantable loop recorder detection of atrial fibrillation to prevent stroke (The LOOP Study): a randomised controlled trial

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Hjertestop hos en patient med langt QT-syndrom i androgendeprivationsterapi

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Sudden unexpected death in epilepsy in persons younger than 50 years: A retrospective nationwide cohort study in Denmark

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer
More than 300 variants in 12 genes have been associated with Brugada syndrome (BrS) which has a prevalence ranging between 1:2000 and 1:100,000. Until recently, there has been little knowledge regarding the distribution of genetic variations in the general population. This problem was partly solved, when exome data from the NHLI GO Exome Sequencing Project (ESP) was published. In this study, we aimed to report the prevalence of previously BrS-associated variants in the ESP population. We performed a search in ESP for variants previously associated with BrS. In addition, four variants in ESP were genotyped in a second Danish control population (n = 536) with available electrocardiograms. In ESP, we identified 38 of 355 (10%) variants, distributed on 272 heterozygote carriers and two homozygote carriers. The genes investigated were on average screened in 6258 individuals. This corresponds to a surprisingly high genotype prevalence of 1:23 (274:6258). Genotyping the four common ESP-derived variants CACNA2D1 S709N, SCN5A F2004L, CACNB2 S143F, and CACNB2 T450I in the Danish controls, we found a genotype prevalence comparable with that found in ESP. We suggest that exome data are used in research, as an additive tool to predict the pathogenicity of variants in patients suspected for BrS.
OriginalsprogEngelsk
TidsskriftClinical Genetics
Vol/bind84
Udgave nummer5
Sider (fra-til)489-95
Antal sider7
ISSN0009-9163
DOI
StatusUdgivet - nov. 2013

ID: 42920701