Esraa Atef: Critical Role of HFM1 Mutation in Embryonic Development
Esraa Atef, Embryologist at City Hospital, shared a post on LinkedIn:
“How can a single gene mutation arrest early embryonic development?
HFM1 (Helicase for Meiosis 1) is a germ cell–specific gene that plays a critical role in meiosis, DNA repair, and female fertility.
Recent research has shown that a homozygous pathogenic mutation in HFM1 can lead to early embryonic developmental arrest in humans.
What happens mechanistically?
The mutation disrupts normal mRNA splicing,
This results in an abnormal HFM1 protein that fails to localize to the nucleus.
As a consequence, zygotic genome activation (ZGA) does not occur properly
Widespread transcriptional and epigenetic dysregulation follows
Ultimately, embryonic development arrests at an early stage
These findings highlight the essential role of nuclear HFM1 in early human embryogenesis and expand our understanding of the genetic causes of female infertility.
This work also emphasizes how noncoding or splicing-related gene variants can have profound biological and clinical consequences.
Paper: A homozygous variant in HFM1 causes preimplantation embryo developmental arrest by disrupting zygotic genome activation,2025
Images showing the morphology of MII oocytes and embryo development on Days 3 and 4 after IVF from the control and proband II-3, who carries the
homozygous HFM1 variant. In two independent ART attempts, all arrested embryos displayed similar morphology.”
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