Department of Clinical Genetics, Aarhus University Hospital, Aalborg Sygehus and Skejby, Aalborg and Aarhus, Denmark.
Mol Hum Reprod. 2012 Dec;18(12):593-8. doi: 10.1093/molehr/gas036. Epub 2012 Aug 21.
Hydatidiform moles (HMs) most often occur sporadically and are either diploid androgenetic or triploid. The very rare familial recurrent HMs (FRHMs) have been related to NLRP7 and C6orf221 mutations in the mother. FRHMs are most often diploid with both maternal and paternal origin of the molar genome. We have screened a cohort of 11 women with diploid HMs with biparental contributions to the molar genome with regard to mutations in NLRP7, NLRP2, the NLRP gene most homologous to NLRP7, and C6orf221. This was done in order to reveal if mutations in the mentioned genes play a major role in development of non-recurrent biparental moles. Recently, we have shown that eight of these diploid moles consist of two different cell lines. Only one woman had a mutation in the coding DNA sequence of NLRP7, which most likely contributed to HM development. This woman had non-mosaic repeated moles, and she was the only woman in our cohort with FRHM. We found no unequivocal pathogenic mutations in NLRP2 or C6orf221. Our observations suggest that although NLRP7 and C6orf221 mutations are related to diploid biparental FRHMs, neither of these genes, nor NLRP2, are related to diploid HMs with biparental contributions to the molar genome, in general.
葡萄胎（HM）通常是散发性的，要么是二倍体的雄原核性，要么是三倍体的。非常罕见的家族性复发性 HM（FRHM）与母亲的 NLRP7 和 C6orf221 突变有关。FRHM 通常是二倍体，具有来自母体和父体的摩尔基因组。我们已经对 11 名具有双亲来源摩尔基因组的二倍体 HM 女性进行了 NLRP7、NLRP2 和与 NLRP7 最同源的 NLRP 基因以及 C6orf221 突变的筛查。这是为了揭示这些基因的突变是否在非复发性双亲性 HM 的发生中起主要作用。最近，我们已经表明，这些二倍体 HM 中有 8 个由两个不同的细胞系组成。只有一名女性的 NLRP7 编码 DNA 序列发生突变，这很可能导致 HM 的发生。这名女性的非嵌合性重复 HM，并且她是我们队列中唯一患有 FRHM 的女性。我们在 NLRP2 或 C6orf221 中没有发现明确的致病突变。我们的观察结果表明，尽管 NLRP7 和 C6orf221 突变与二倍体双亲性 FRHM 有关，但这些基因以及 NLRP2 与具有双亲贡献的二倍体 HM 无关，一般来说。
