Oocyte/zygote/embryo maturation arrest: a clinical study expanding the phenotype of NOBOX variants.

ABSTRACT:

Purpose

Primary ovarian insufficiency (POI) is an important cause of female infertility, stemming from follicle dysfunction or premature oocyte depletion. Pathogenic variants in genes such as NOBOX, GDF9, BMP15, and FSHR have been linked to POI. NOBOX, a transcription factor expressed in oocytes and granulosa cells, plays a pivotal role in folliculogenesis. Loss-of-function variants in NOBOX are reported in 1-2% of POI women. This study aims to describe the association of novel NOBOX variants with a distinct oocyte, zygote, and embryo maturation arrest (OZEMA) phenotype in infertile women.

Methods

Three unrelated women experiencing OZEMA and undergoing multiple in vitro fertilization (IVF) cycles present with a germline NOBOX variant. The detected variants were cross-referen

SUBMITTER: Van Der Kelen A 

PROVIDER: S-EPMC11950555 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature