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Brief Communication

Nature Genetics 38, 300–302 (1 March 2006) | doi:10.1038/ng1740

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

Sharlene Murdoch , Ugljesa Djuric , Batool Mazhar , Muheiddine Seoud , Rabia Khan , Rork Kuick , Rashmi Bagga , Renate Kircheisen , Asangla Ao , Bhawna Ratti , Samir Hanash , Guy A Rouleau & Rima Slim

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.