The Application of Clinical Genetics (Feb 2021)
Genetic Factors Underlying Sudden Infant Death Syndrome
Abstract
Christine Keywan,1 Annapurna H Poduri,1– 5 Richard D Goldstein,1,6,7 Ingrid A Holm1,6,8 1Robert’s Program for Sudden Unexpected Death in Pediatrics, Boston Children’s Hospital, Boston, MA, USA; 2F.M. Kirby Neurobiology Center, Boston Children’s Hospital, Boston, MA, USA; 3Epilepsy Genetics Program, Department of Neurology, Boston Children’s Hospital and Harvard Medical School, Boston, MA, USA; 4Broad Institute of MIT and Harvard, Cambridge, MA, USA; 5Department of Neurology, Harvard Medical School, Boston, MA, USA; 6Department of Pediatrics, Harvard Medical School, Boston, MA, USA; 7Division of General Pediatrics, Department of Pediatrics, Boston Children’s Hospital, Boston, MA, USA; 8Division of Genetics and Genomics, Department of Pediatrics, and Manton Center for Orphan Diseases Research, Boston Children’s Hospital, Boston, MA, USACorrespondence: Ingrid A HolmBoston Children’s Hospital, Division of Genetics and Genomics, 3 Blackfan Circle, Mailstop BCH3150, Boston, MA 02115, USAEmail [email protected]: Sudden Infant Death syndrome (SIDS) is a diagnosis of exclusion. Decades of research have made steady gains in understanding plausible mechanisms of terminal events. Current evidence suggests SIDS includes heterogeneous biological conditions, such as metabolic, cardiac, neurologic, respiratory, and infectious conditions. Here we review genetic studies that address each of these areas in SIDS cases and cohorts, providing a broad view of the genetic underpinnings of this devastating phenomenon. The current literature has established a role for monogenic genetic causes of SIDS mortality in a subset of cases. To expand upon our current knowledge of disease-causing genetic variants in SIDS cohorts and their mechanisms, future genetic studies may employ functional assessments of implicated variants, broader genetic tests, and the inclusion of parental genetic data and family history information.Keywords: SIDS, SUID, sudden infant death, gene, genetic, review
