Since heritable genetic variants have been suggested as the cause of up to a third of sudden death (SD) cases of infants, children, and young adults, this project developed cost-effective genetic screening for autopsy by sequencing full exons of 64 genes associated with SD in the largest known cohort (n=351) of infant and young SD decedents, using next-generation sequencing technology at less than $600 per sample.
Putative causal genetic variants were assessed using a literature review and clinical evaluation by a multidisciplinary consortium of experts. The study found that 13 (3.7 percent) of the cohort had a causal genetic variant that resulted in SD. The 13 consisted of 8 infants (2.8 percent of those less than 1 year old) and 5 children/young adults( 7 percent of those greater than 1 year old). These variants were observed in 10 of 64 genes tested. Combined with the large cohort size and multidisciplinary screening of putative pathogenic genetic variants, these percentages represent an estimate lower than those previously reported. This report concludes that this project has demonstrated a cost-effective strategy for molecular autopsies in medicolegal investigations of young SD decedents. 5 tables, 2 figures, and 50 references
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