Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans
Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans
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DOI：
10.1038/ng1740
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发表时间：
2006-03-01
期刊：
影响因子：
30.8
通讯作者：
Slim, R
中科院分区：
文献类型：
--
作者：
Murdoch, S;Djuric, U;Slim, R
葡萄胎是一种无胚胎、胎盘绒毛囊性变性的异常妊娠。我们报告了家族性和复发性HMS患者母体基因NALP7的五个突变。NALP7是参与炎症和细胞凋亡的卡特彼勒蛋白家族的成员。NALP7是在人类中发现的第一个母体效应基因，也是导致反复自然流产、死产和胎儿生长迟缓的原因。
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.