Biallelic variants in the conserved ribosomal protein chaperone gene <i>PDCD2</i> are associated with hydrops fetalis and early pregnancy loss.

ABSTRACT: Pregnancy loss is a major problem in clinical medicine with devastating consequences for families. Next generation sequencing has improved our ability to identify underlying molecular causes, though over half of all cases lack a clear etiology. Here, we began with clinical evaluation combined with exome sequencing across independent families to identify bi-allelic candidate genetic variants in the Programmed Cell Death 2 (PDCD2) gene in multiple fetuses with nonimmune hydrops fetalis (NIHF). PDCD2 is an evolutionarily conserved protein with no prior association with monogenic disorders. PDCD2 is known to act as a molecular chaperone for the ribosomal protein uS5, and this complex formation is important for incorporation of uS5 into the 40S subunit, a crucial step in ribosome biogene

SUBMITTER: Landry-Voyer AM 

PROVIDER: S-EPMC12012559 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature