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Nat Genet. 2006 Mar;38(3):300-2. Epub 2006 Feb 5.

Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans.

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1
Department of Human Genetics, McGill University Health Center, Montreal H3G 1A4, Canada.

Abstract

Hydatidiform mole (HM) is an abnormal human pregnancy with no embryo and cystic degeneration of placental villi. We report five mutations in the maternal gene NALP7 in individuals with familial and recurrent HMs. NALP7 is a member of the CATERPILLER protein family involved in inflammation and apoptosis. NALP7 is the first maternal effect gene identified in humans and is also responsible for recurrent spontaneous abortions, stillbirths and intrauterine growth retardation.

PMID:
16462743
DOI:
10.1038/ng1740
[Indexed for MEDLINE]
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