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

  • Nat Genet. 2006 Mar;38(3):300-2. doi: 10.1038/ng1740.
Sharlene Murdoch  1 ,  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
Affiliations
  • 1. Department of Human Genetics, McGill University Health Center, Montreal H3G 1A4, Canada.
PMID: 16462743 DOI: 10.1038/ng1740
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.