Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans.
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.
Murdoch
Sharlene
S
Department of Human Genetics, McGill University Health Center, Montreal H3G 1A4, Canada.
Djuric
Ugljesa
U
Mazhar
Batool
B
Seoud
Muheiddine
M
Khan
Rabia
R
Kuick
Rork
R
Bagga
Rashmi
R
Kircheisen
Renate
R
Ao
Asangla
A
Ratti
Bhawna
B
Hanash
Samir
S
Rouleau
Guy A
GA
Slim
Rima
R
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*
D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; C502448:NLRP7 protein, human