NIH Research Festival
Sudden infant death “syndrome” (SIDS) refers to unexplained death in the first year of life occurring during sleep in the setting of an unrevealing; autopsy, clinical history and review of the sleeping environment. The true overall Mendelian contribution to SIDs may be difficult to ascertain given reduced penetrance and variable expressivity. However, heritable cardiac channelopathy and cardiomyopathy variants may account for approximately a third of cases. Conceptualizing SIDs as an early clinical presentation of a broader sudden death phenotypic spectrum extending from infancy to adulthood and including additional candidate phenotypic features such as cardiomyopathy should allow for greater Mendelian interrogation of causative genes and an expansion of the phenotype associated with those genes as they relate to sudden death. As an initial step, in an effort to discern the extent to which familial cases of SIDS exist, we undertook an analysis of SIDS cases and their familial relationships using the Utah Population Database (UPDB) including cases and affected/unaffected relatives prior to and following the safe sleeping guidelines (“back to sleep”) of the 1990’s. We identified 1701 cases between 1968 and 2013 with linked relatives including 10 affected sib pairs, 3 pairs of affected second degree relatives, 13 pairs of affected first cousins, and 61 affected second cousins. Overall there were 113 individuals related to another case of SIDS. The pedigree structure of these relationships in nuclear and expanded families provides a basis for further inquiry into the expanded phenotype of sudden death.
Scientific Focus Area: Genetics and Genomics
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