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Article

A homozygous variant in HFM1 causes preimplantation embryo developmental arrest by disrupting zygotic genome activation.

Human reproduction (Oxford, England) - 1 Feb 2026

Zhang Y-W, Zhang X-G, Li P-Y, Meng T-G, Xu F-F, Liu M-Y, Zhu H-J, Chen L-N, Zeng L, Li J, Yang Z, Luo S-M, Sun Q-Y, Chen J, Li S, Ou X-H

Abstract excerpt

STUDY QUESTION: Does a homozygous HFM1 mutation cause human embryonic developmental arrest by disrupting zygotic genome activation? SUMMARY ANSWER: A pathogenic homozygous HFM1 mutation causes aberrant mRNA splicing and produces a protein that fails to localize to the nucleus, leading to widespread transcriptional dysregulation, failure of zygotic genome activation, and consequent embryonic arrest. WHAT IS KNOWN...

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Identifiers

PMID: 41423819
DOI: 10.1093/humrep/deaf238
PMCID: PMC12864151

Genes

HFM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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A homozygous variant in HFM1 causes preimplantation embryo developmental arrest by disrupting zygotic genome activation.PMID 41423819Read ↗

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