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Article

Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance.

Clinical epigenetics - 14 Sept 2020

Cubellis Maria Vittoria, Pignata Laura, Verma Ankit, Sparago Angela, Del Prete Rosita, Monticelli Maria, Calzari Luciano, Antona Vincenzo, Melis Daniela, Tenconi Romano, Russo Silvia, Cerrato Flavia, Riccio Andrea

Abstract excerpt

BACKGROUND: PADI6 is a component of the subcortical maternal complex, a group of proteins that is abundantly expressed in the oocyte cytoplasm, but is required for the correct development of early embryo. Maternal-effect variants of the subcortical maternal complex proteins are associated with heterogeneous diseases, including female infertility, hydatidiform mole, and imprinting disorders with multi-locus...

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Identifiers

PMID: 32928291
DOI: 10.1186/s13148-020-00925-2
PMCID: PMC7489023

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Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance.PMID 32928291Read ↗

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