Novel biallelic MEI1 variants cause female infertility characterized by multiple pronuclei formation and aberrant embryonic development.

ABSTRACT:

Background

Biallelic variants in meiosis inhibitor protein 1 (MEI1) have recently been implicated in embryonic developmental arrest. However, the genomic and transcriptomic consequences of these MEI1 variants remain only partially understood. This study aims to expand the known MEI1 variant spectrum and elucidate the molecular mechanisms by which these variants affect early embryonic development.

Results

Two unrelated infertile women experiencing embryonic developmental arrest were identified to carry novel biallelic MEI1 variants using whole-exome sequencing. The functional impact of these variants was characterized through a combination of in vivo and in vitro analyses. Additionally, genomic and transcriptomic sequencing was performed on embryos from one of the patients. P

SUBMITTER: Jiao X 

PROVIDER: S-EPMC12729177 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature