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Exome-Wide Rare Variant Analyses in Sudden Infant Death Syndrome

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David J. Tester, Leonie C.H. Wong, Pritha Chanana, Belinda Gray, Amie Jaye, Jared M. Evans, Margaret Evans, Peter Fleming, Iona Jeffrey, Marta Cohen, Jacob Tfelt-Hansen, Michael A. Simpson, Elijah R. Behr, Michael J. Ackerman

Original languageEnglish
JournalJournal of Pediatrics
Early online date26 Sep 2018
Accepted/In press8 Aug 2018
E-pub ahead of print26 Sep 2018

King's Authors


Objective To determine whether a monogenic basis explains sudden infant death syndrome (SIDS) using an exome-wide focus. Study design A cohort of 427 unrelated cases of SIDS (257 male; average age = 2.7 ± 1.9 months) underwent whole-exome sequencing. Exome-wide rare variant analyses were carried out with 278 SIDS cases of European ancestry (173 male; average age = 2.7 ± 1.98 months) and 973 ethnic-matched controls based on 6 genetic models. Ingenuity Pathway Analysis also was performed. The cohort was collected in collaboration with coroners, medical examiners, and pathologists by St George's University of London, United Kingdom, and Mayo Clinic, Rochester, Minnesota. Whole-exome sequencing was performed at the Genomic Laboratory, Kings College London, United Kingdom, or Mayo Clinic's Medical Genome Facility, Rochester, Minnesota. Results Although no exome-wide significant (P 

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