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.
Canadian Journal of Cardiology, 2013, Vol 29, Issue 9, p. 1104-1109
Journal Article; Research Support, Non-U.S. Gov't; African Americans; Caveolin 3; Ether-A-Go-Go Potassium Channels; European Continental Ancestry Group; Exome; Genetic Variation; Genotype; Humans; Infant; Ion Channels; Mutation; NAV1.5 Voltage-Gated Sodium Channel; Prevalence; Sudden Infant Death