Mutational disruption of transcription factors binding and regulatory networks in a case of unexplained total fertilization failure.

ABSTRACT:

Background

Fertilization involves fusion between sperm and metaphase II (MII) oocyte, initiating a cascade of events including oocyte activation, resumption of meiosis, formation and interdigitation of male and female pronuclei, and zygote formation. Total Fertilization Failure (TFF), characterized by the disruption of any of these processes, occurs in 1-3% of intracytoplasmic sperm injection (ICSI) cycles. The genetic basis of TFF remains largely unexplored. TFF can occur in cases where no single genetic cause is apparent, suggesting a potential polygenic contribution.

Methods

A couple (34 year-old female and 35 year-old male) affected by TFF, and the mother of the affected female patient. A multi-tiered genomic, transcriptomic and functional investigation was conducted to

SUBMITTER: Ata M 

PROVIDER: S-EPMC12584518 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature