Genetic Determinants of Sudden Unexpected Death in Pediatrics.

ABSTRACT:

Purpose

This study aimed to evaluate genetic contributions to sudden unexpected death in pediatrics (SUDP).

Methods

We phenotyped and performed exome sequencing for 352 SUDP cases. We analyzed variants in 294 "SUDP genes" with mechanisms plausibly related to sudden death. In a subset of 73 cases with parental data (trios), we performed exome-wide analyses and conducted cohort-wide burden analyses.

Results

In total, we identified likely contributory variants in 37 of 352 probands (11%). Analysis of SUDP genes identified pathogenic/likely pathogenic variants in 12 of 352 cases (SCN1A, DEPDC5 [2], GABRG2, SCN5A [2], TTN [2], MYBPC3, PLN, TNNI3, and PDHA1) and variants of unknown significance-favor-pathogenic in 17 of 352 cases. Exome-wide analyses of the 73 cases with fa

SUBMITTER: Koh HY 

PROVIDER: S-EPMC9164313 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature