Written by Khatuna Lobjanidze

 

Sudden infant death syndrome (SIDS) is a leading cause of post neonatal mortality. Genetic heart diseases (GHDs) underlie some cases of SIDS.

This study aimed to determine the spectrum and prevalence of GHD-associated mutations as a potential monogenic basis for SIDS.

A cohort of 419 unrelated SIDS cases underwent whole exome sequencing and a targeted analysis of 90 GHD-susceptibility genes. The yield of “potentially informative,” ultra-rare variants in GHD-associated genes was assessed. Infants older than 4 months were more likely to host a “potentially informative” GHD-associated variants. There was a significant overrepresentation of ultra-rare non synonymous variants in European SIDS cases versus European control subjects when combining all 4 major cardiac channelopathy genes. According to the American College of Medical Genetics guidelines, only 4.3% SIDS cases hosted a “pathogenic” or “likely pathogenic” variants.

Consistent with previous studies, ultra-rare, non synonymous variants within the major cardiac channelopathy-associated genes were overrepresented in SIDS cases in infants of European ethnicity.