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

被引：362

作者：

Murdoch, S

Djuric, U

Mazhar, B

Seoud, M

Khan, R

Kuick, R

Bagga, R

Kircheisen, R

Ao, A

Ratti, B

Hanash, S

Rouleau, GA

Slim, R ^{[1
]}

机构：

[1] McGill Univ, Ctr Hlth, Dept Human Genet, Montreal, PQ H3G 1A4, Canada

[2] McGill Univ, Ctr Hlth, Dept Obstet & Gynecol, Montreal, PQ H3G 1A4, Canada

[3] Pakistan Inst Med Sci, Dept Obstet & Gynecol, Maternal & Child Hlth Ctr Unit 11, Islamabad, Pakistan

[4] Amer Univ Beirut, Dept Obstet & Gynecol, Beirut, Lebanon

[5] Univ Michigan, Dept Pediat & Commun Dis, Ann Arbor, MI 48109 USA

[6] Postgrad Inst Med Educ & Res, Dept Obstet & Gynecol, Chandigarh 160012, India

[7] Inst Klin Genet, D-55131 Mainz, Germany

[8] Notre Dame Hosp, Ctr Study Brain Dis, Montreal, PQ H2L 4M1, Canada

来源：

NATURE GENETICS | 2006年 / 38卷 / 03期

基金：

加拿大健康研究院;

关键词：

D O I：

10.1038/ng1740

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：300 / 302

页数：3

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