University of Cukurova School of Medicine, Department of Obstetrics & Gynecology, 01330 Adana, Turkey.
Placenta. 2010 Nov;31(11):1023-5. doi: 10.1016/j.placenta.2010.09.003. Epub 2010 Sep 26.
Subsequent pregnancy outcomes following complete hydatidiform moles (CHM) are usually favorable and the risk of a second CHM less than 2%. However, a small number of women have a rare autosomal recessive condition that predisposes them to CHM. Unlike typical CHM, that are androgenetic (AnCHM), the CHM in these women are diploid and biparental (BiCHM) with a contribution from each parent to the nuclear genome. To date most women with recurrent CHM have been found to have BiCHM and to have a wide variety of mutations in the causative gene, NLRP7. Our objectives were to genotype the molar tissue and identify the NLRP7 mutations in two unrelated Turkish women with recurrent CHM. Fluorescent microsatellite genotyping of molar tissue and screening of patient DNA for NLRP7 mutations was carried out in two women with five and four CHM respectively. The first case was confirmed to have BiCHM. In addition the patient was found to have a novel homozygous mutation in exon 8 of NLRP7. All CHM examined in the second case were AnCHM and no NLRP7 mutations were identified in DNA from the patient. This report describes a further individual with BiCHM and a novel mutation in NLRP7. A second patient with similar clinical history had no mutations in NLRP7 and is the first report of a patient with four CHM where the CHM are androgenetic. This study highlights the heterogeneity of recurrent CHM and the need to investigate women with recurrent molar pregnancies for appropriate clinical management.
完全性葡萄胎（CHM）后再次妊娠的结局通常较好，再次发生 CHM 的风险小于 2%。然而，少数女性存在一种罕见的常染色体隐性遗传疾病，使她们易患 CHM。与典型的 CHM（即雄激素性 CHM，AnCHM）不同，这些女性的 CHM 是二倍体和双亲性的（BiCHM），核基因组来自每个父母的贡献。迄今为止，大多数复发性 CHM 患者已被发现为 BiCHM，并在致病基因 NLRP7 中存在多种突变。我们的目的是对两名患有复发性 CHM 的土耳其女性的葡萄胎组织进行基因分型，并鉴定 NLRP7 突变。对两名分别有 5 次和 4 次 CHM 的女性的葡萄胎组织进行荧光微卫星基因分型和 NLRP7 基因突变的患者 DNA 筛查。第一个病例被证实为 BiCHM。此外，患者还被发现存在 NLRP7 外显子 8 中的新型纯合突变。第二个病例中检查的所有 CHM 均为 AnCHM，未在患者的 DNA 中发现 NLRP7 突变。本报告描述了另一名具有 BiCHM 和 NLRP7 新突变的个体。第二位具有类似临床病史的患者在 NLRP7 中没有突变，这是首例报告 4 次 CHM 均为雄激素性的患者。本研究强调了复发性 CHM 的异质性，需要对复发性葡萄胎妊娠的女性进行适当的临床管理调查。
