Massively Parallel Sequencing of 43 Arrhythmia Genes in a Selected SUDI Cohort from Cape Town.

ABSTRACT: Sudden unexpected death in infants (SUDI) is a devastating event, and unfortunately occurs frequently in developing countries. The emerging molecular autopsy has added value to post-mortem investigations, where genetic variants were able to explain the unexpected demise. Many of these variants have been found in genes involved in arrythmia pathways. The aim of this study was to sequence 43 genes previously associated with cardiac arrhythmia in a selected cohort of SUDI cases ( n  = 19) in South Africa. A total of 335 variants were found among the 19 infants, of which four were novel. The variants were classified as "likely pathogenic" ( n  = 1), "variant of unknown significance" ( n  = 54), "likely benign" ( n  = 56) or "benign" ( n  = 224). The likely pa

SUBMITTER: Heathfield LJ 

PROVIDER: S-EPMC9578775 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature