Laboratoire d’anatomie et decytologie pathologiques-CHU, Farhat Hached, Rue Ibn Eljazzar, Sousse 4000, Tunisia.
Arch Pathol Lab Med. 2012 Jun;136(6):646-51. doi: 10.5858/arpa.2011-0399-OA.
Hydatidiform mole, an aberrant human pregnancy, is commonly a nonrecurrent disease. Recently, a rare autosomal recessive form of familial and/or recurrent molar pregnancies was associated with mutations in the NLRP7 gene.
To investigate whether NLRP7 mutations exist in Tunisian women with sporadic hydatidiform moles.
Genomic DNA from 38 unrelated Tunisian patients with sporadic hydatidiform moles were screened by sequencing all NLRP7 exons. A high-resolution melting curve analysis was performed on 170 DNA controls to analyze new sequence variants.
More than 13% of these patients were heterozygous for NLRP7 mutations. We found 2 novel missense mutations in the heterozygous state, c.544G>A (p.Val182Met) in 1 patient and c.1480G>A (p.Ala494Thr) in 2 patients, and 2 already reported mutations, c.1532A>G (p.Lys511Arg) and c.2156C>T (p.Ala719Val), in 2 patients. None of these mutations were identified in 170 controls except for 1 woman who was heterozygous for p.Val182Met.
As homozygous NLRP7 mutations are associated with recurrent hydatidiform mole or conception loss, the heterozygous state could represent a risk factor for nonrecurrent mole.
葡萄胎是一种异常的人类妊娠，通常是一种非复发性疾病。最近，一种罕见的常染色体隐性遗传性家族性和/或复发性葡萄胎与 NLRP7 基因突变有关。
研究 NLRP7 突变是否存在于突尼斯散发性葡萄胎女性中。
通过对 38 例无关突尼斯散发性葡萄胎患者的基因组 DNA 进行测序，筛选所有 NLRP7 外显子。对 170 个 DNA 对照进行高分辨率熔解曲线分析，以分析新的序列变异。
这些患者中有超过 13%为 NLRP7 突变的杂合子。我们在 1 例患者中发现了 2 种新的错义突变杂合状态，c.544G>A(p.Val182Met)和 c.1480G>A(p.Ala494Thr)，在 2 例患者中发现了 2 种已报道的突变 c.1532A>G(p.Lys511Arg)和 c.2156C>T(p.Ala719Val)。除了 1 名女性为 p.Val182Met 杂合子外，170 个对照中未发现这些突变。
由于纯合 NLRP7 突变与复发性葡萄胎或妊娠丢失有关，杂合状态可能是复发性葡萄胎的一个危险因素。
