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

Nat Genet. 2006 Mar;38(3):300-2. doi: 10.1038/ng1740. Epub 2006 Feb 5.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Carrier Proteins / genetics*
  • Ethnicity
  • Female
  • Humans
  • Hydatidiform Mole / genetics*
  • Male
  • Mutation*
  • Pedigree
  • Pregnancy
  • Reproduction / genetics*
  • Uterine Neoplasms / genetics*


  • Adaptor Proteins, Signal Transducing
  • Carrier Proteins
  • NLRP7 protein, human