Homozygous variant in JARID2 causes female infertility characterized by compromised blastulation efficiency.

ABSTRACT:

Background

Impaired embryonic developmental competence is a critical determinant of assisted reproductive technology (ART) failure, yet current genetic diagnostics primarily address complete early embryonic arrest, leaving partial developmental defects unexplained, such as compromised blastulation efficiency (CBE). Jumonji and AT-rich interaction domain containing 2 (JARID2), encoding a chromatin-modifying factor essential for histone methylation regulation, emerges as a novel candidate in this context.

Results

We identified a homozygous JARID2 missense variant (c.899G > A, p.Arg300Gln) in a female patient exhibiting CBE under autosomal recessive inheritance. Functional studies in transiently transfected HeLa cells demonstrated preserved protein abundance and subcellular loc

SUBMITTER: Sun J 

PROVIDER: S-EPMC12398144 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature