Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community.

ABSTRACT:

Importance

The exome molecular autopsy may elucidate a pathogenic substrate for sudden unexplained death.

Objective

To investigate the underlying cause of multiple sudden deaths in young individuals and sudden cardiac arrests that occurred in 2 large Amish families.

Design, setting, and participants

Two large extended Amish families with multiple sudden deaths in young individuals and sudden cardiac arrests were included in the study. A recessive inheritance pattern was suggested based on an extended family history of sudden deaths in young individuals and sudden cardiac arrests, despite unaffected parents. A family with exercise-associated sudden deaths in young individuals occurring in 4 siblings was referred for postmortem genetic testing using an exome molecular a

SUBMITTER: Tester DJ 

PROVIDER: S-EPMC6990654 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature