Exome-Wide Rare Variant Analyses in Sudden Infant Death Syndrome

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

Research output: Contribution to journalArticlepeer-review

16 Citations (Scopus)

Abstract

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 
Original languageEnglish
JournalJournal of Pediatrics
Early online date26 Sept 2018
DOIs
Publication statusE-pub ahead of print - 26 Sept 2018

Keywords

  • inherited cardiac conditions
  • molecular autopsy
  • sudden infant death syndrome
  • whole exome sequencing

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