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 apopto...

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Veröffentlicht in:	Nature genetics 2006-03, Vol.38 (3), p.300-302
Hauptverfasser:	Murdoch, Sharlene, Djuric, Ugljesa, Mazhar, Batool, Seoud, Muheiddine, Khan, Rabia, Kuick, Rork, Bagga, Rashmi, Kircheisen, Renate, Ao, Asangla, Ratti, Bhawna, Hanash, Samir, Rouleau, Guy A, Slim, Rima
Format:	Artikel
Sprache:	eng
Schlagworte:	Adaptor Proteins, Signal Transducing - genetics Agriculture Animal Genetics and Genomics Biological and medical sciences Biomedical and Life Sciences Biomedicine Births brief-communication Cancer Research Carrier Proteins - genetics Diseases of mother, fetus and pregnancy Embryos Ethnic Groups Female Fundamental and applied biological sciences. Psychology Gene Function Gene mutations Genes Genetic aspects Genetics of eukaryotes. Biological and molecular evolution Gynecology. Andrology. Obstetrics Human Genetics Humans Hydatidiform mole Hydatidiform Mole - genetics Influence Male Medical sciences Mutation Pedigree Physiological aspects Pregnancy Pregnancy, Molar Pregnancy. Fetus. Placenta Proteins Reproduction - genetics Reproductive system Uterine Neoplasms - genetics
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Beschreibung
Zusammenfassung:	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.
ISSN:	1061-4036 1546-1718
DOI:	10.1038/ng1740