title: Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans.
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.
authors.affiliation: Department of Human Genetics, McGill University Health Center, Montreal H3G 1A4, Canada.
authors.forename: Sharlene
authors.initials: S
authors.lastname: Murdoch
authors.forename: Ugljesa
authors.initials: U
authors.lastname: Djuric
authors.forename: Batool
authors.initials: B
authors.lastname: Mazhar
authors.forename: Muheiddine
authors.initials: M
authors.lastname: Seoud
authors.forename: Rabia
authors.initials: R
authors.lastname: Khan
authors.forename: Rork
authors.initials: R
authors.lastname: Kuick
authors.forename: Rashmi
authors.initials: R
authors.lastname: Bagga
authors.forename: Renate
authors.initials: R
authors.lastname: Kircheisen
authors.forename: Asangla
authors.initials: A
authors.lastname: Ao
authors.forename: Bhawna
authors.initials: B
authors.lastname: Ratti
authors.forename: Samir
authors.initials: S
authors.lastname: Hanash
authors.forename: Guy A
authors.initials: GA
authors.lastname: Rouleau
authors.forename: Rima
authors.initials: R
authors.lastname: Slim
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D005006:Ethnicity; D005260:Female; D006801:Humans; D006828:Hydatidiform Mole / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D011247:Pregnancy; D012098:Reproduction / Q000235:genetics*; D014594:Uterine Neoplasms / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; C502448:NLRP7 protein, human