Sudden unexpected death in asymptomatic infants due to PPA2 variants.

ABSTRACT:

Background

Sudden death in children is a tragic event that often remains unexplained after comprehensive investigation. We report two asymptomatic siblings who died unexpectedly at approximately 1 year of age found to have biallelic (compound heterozygous) variants in PPA2.

Methods

The index case, parents, and sister were enrolled in the Sudden Unexplained Death in Childhood Registry and Research Collaborative, which included next-generation genetic screening. Prior published cases of PPA2 variants, along with the known biology of PPA2, were also summarized.

Results

Whole exome sequencing in both siblings revealed biallelic rare missense variants in PPA2: c.182C > T (p.Ser61Phe) and c.380G > T (p.Arg127Leu). PPA2 encodes a mitochondrially located inorganic pyrophospha

SUBMITTER: Phoon CKL 

PROVIDER: S-EPMC6978244 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature