Cardiac Genetic Predisposition in Sudden Infant Death Syndrome

Authors :: Peter J. Fleming
David R. FitzPatrick
Amie Jaye
Michael A. Simpson
Michael J. Ackerman
David J. Tester
Leonie C.H. Wong
Jared M. Evans
Jacob Tfelt-Hansen
Margaret J. Evans
Elijah R. Behr
Pritha Chanana
Marta C. Cohen
Iona Jeffrey
Source :: Tester, D J, Wong, L C H, Chanana, P, Jaye, A, Evans, J M, FitzPatrick, D R, Evans, M J, Fleming, P, Jeffrey, I, Cohen, M C, Tfelt-Hansen, J, Simpson, M A, Behr, E R & Ackerman, M J 2018, ' Cardiac Genetic Predisposition in Sudden Infant Death Syndrome ', Journal of the American College of Cardiology, vol. 71, no. 11, pp. 1217-1227 . https://doi.org/10.1016/j.jacc.2018.01.030
Publication Year :: 2018
Publisher :: Elsevier BV, 2018.
Abstract: Background: Sudden infant death syndrome (SIDS) is a leading cause of postneonatal mortality. Genetic heart diseases (GHDs) underlie some cases of SIDS. Objectives: This study aimed to determine the spectrum and prevalence of GHD-associated mutations as a potential monogenic basis for SIDS. Methods: A cohort of 419 unrelated SIDS cases (257 male; average age 2.7 ± 1.9 months) underwent whole exome sequencing and a targeted analysis of 90 GHD-susceptibility genes. The yield of “potentially informative,” ultra-rare variants (minor allele frequency

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