Live births in women with recurrent hydatidiform mole and two NLRP7 mutations
Live births in women with recurrent hydatidiform mole and two NLRP7 mutations
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DOI：
10.1016/j.rbmo.2015.03.011
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发表时间：
2015-07-01
影响因子：
4
通讯作者：
Slim, Rima
中科院分区：
文献类型：
--
作者：
Akoury, Elie;Gupta, Neerja;Slim, Rima
葡萄胎（HM）是一种异常的人类妊娠，具有胚胎发育异常和滋养层过度增殖的现象。 NLRP7 的隐性突变是导致 HM (RHM) 复发的原因。除了 131 名报告患者中的 3 名之外，携带隐性 NLRP7 突变的女性无法自然受孕正常妊娠。由于没有针对 RHM 的治疗方法，并且卵母细胞中需要母体效应基因来维持正常的胚胎发育直至胚胎基因组激活，因此一名患有隐性 NLRP7 突变的患者尝试了卵子捐赠并成功怀孕。这项研究报告称，两名患有隐性 NLRP7 突变的患者捐赠的卵子又产下了三名活产婴儿。还报道了另外两名患者自然受孕的两次活产。对所有报告患者的生殖结果和突变进行了审查，发现活产与一些错义突变有关，预计这些突变会对蛋白质产生轻微的功能影响。这些数据支持了之前的观察结果，即卵子捐赠似乎是这些患者实现正常妊娠的最佳管理选择，并为具有两种 NLRP7 突变的患者自然自发受孕罕见的活产提供了解释。 (C) 2015 Reproductive Healthcare Ltd. 由 Elsevier Ltd 出版。保留所有权利。
Hydatidiform mole (HM) is an aberrant human pregnancy with abnormal embryonic development and excessive proliferation of the trophoblast. Recessive mutations in NLRP7 are responsible for recurrent HM (RHM). Women with recessive NLRP7 mutations fail to have normal pregnancies from spontaneous conceptions with the exception of three out of 131 reported patients. Because there is no treatment for RHM and maternal-effect genes are needed in the oocytes to sustain normal embryonic development until the activation of the embryonic genome, one patient with recessive NLRP7 mutations tried ovum donation and achieved a successful pregnancy. This study reports three additional live births from donated ova to two patients with recessive NLRP7 mutations. The occurrence of two live births from spontaneous conceptions to two other patients is also reported. The reproductive outcomes and mutations of all reported patients were reviewed and it was found that live births are associated with some missense mutations expected to have mild functional consequences on the protein. The data support a previous observation that ovum donation appears the best management option for these patients to achieve normal pregnancies and provide an explanation for the rare occurrence of live births from natural spontaneous conceptions in patients with two NLRP7 mutations. (C) 2015 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.