Clinical exome sequencing elucidates underlying cause of death in sudden unexpected death of infants: two case reports.

ABSTRACT: Sudden unexpected death in infants (SUDI) is a traumatic event for families, and unfortunately its occurrence remains high in many parts of the world. Whilst cause of death is resolved for most cases, others remain undetermined following postmortem investigations. There has been a recognition of the role of genetic testing in unexplained cases, where previous studies have demonstrated the resolution of cases through DNA analyses. Here we present two case reports of SUDI cases admitted to Salt River Mortuary, South Africa, and show that underlying causes of death were determined for both infants using clinical exome sequencing. The first infant was heterozygous for a variant (rs148175795) in COL6A3, which suggested a bronchopulmonary dysplasia phenotype. This hypothesis led to finding of a

SUBMITTER: Heathfield LJ 

PROVIDER: S-EPMC10861614 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature