Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data

Charlotte Hartig Andreasen, Lena Refsgaard, Jonas B Nielsen, Ahmad Sajadieh, Bo G Winkel, Jacob Tfelt-Hansen, Stig Haunsø, Anders G Holst, Jesper H Svendsen, Morten S Olesen

51 Citationer (Scopus)

Abstract

Sudden infant death syndrome (SIDS) is the leading cause of death in the first 6 months after birth in the industrialized world. The genetic contribution to SIDS has been investigated intensively and to date, 14 cardiac channelopathy genes have been associated with SIDS. Newly published data from National Heart, Lung, and Blood Institute Grand Opportunity (NHLBI GO) Exome Sequencing Project (ESP) provided important knowledge on genetic variation in the background population. Our aim was to identify all variants previously associated with SIDS in ESP to improve the discrimination between plausible disease-causing mutations and variants most likely to be false-positive.
OriginalsprogEngelsk
TidsskriftThe Canadian journal of cardiology
Vol/bind29
Udgave nummer9
Sider (fra-til)1104-9
Antal sider6
ISSN0828-282X
DOI
StatusUdgivet - sep. 2013

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