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Article

A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation.

Genome medicine - 17 Dec 2019

Demond Hannah, Anvar Zahra, Jahromi Bahia Namavar, Sparago Angela, Verma Ankit, Davari Maryam, Calzari Luciano, Russo Silvia, Jahromi Mojgan Akbarzadeh, Monk David, Andrews Simon, Riccio Andrea, Kelsey Gavin

Abstract excerpt

BACKGROUND: Maternal effect mutations in the components of the subcortical maternal complex (SCMC) of the human oocyte can cause early embryonic failure, gestational abnormalities and recurrent pregnancy loss. Enigmatically, they are also associated with DNA methylation abnormalities at imprinted genes in conceptuses: in the devastating gestational abnormality biparental complete hydatidiform mole (BiCHM) or in...

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Identifiers

PMID: 31847873
DOI: 10.1186/s13073-019-0694-y
PMCID: PMC6918611

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation.PMID 31847873Read ↗

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