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

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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.

Original languageEnglish (US)
Pages (from-to)300-302
Number of pages3
JournalNature Genetics
Volume38
Issue number3
DOIs
StatePublished - Mar 1 2006

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ASJC Scopus subject areas

  • Genetics

Cite this

Murdoch, S., Djuric, U., Mazhar, B., Seoud, M., Khan, R., Kuick, R., Bagga, R., Kircheisen, R., Ao, A., Ratti, B., Hanash, S., Rouleau, G. A., & Slim, R. (2006). Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. Nature Genetics, 38(3), 300-302. https://doi.org/10.1038/ng1740