The p.L750V mutation in the NLRP7 gene is frequent in Mexican patients with recurrent molar pregnancies and is not associated with recurrent pregnancy loss.

作者： Higinio Estrada , Beatriz Buentello , Juan Carlos Zenteno , Rachel Fiszman , Mónica Aguinaga

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摘要: Objective The aim of this study is to analyze NLRP7 mutation frequency in 20 Mexican patients with recurrent hydatidiform moles (RHMs). Patients Twenty RHMs, 50 couples pregnancy loss (RPL), and 100 controls were included the study. Molecular analysis coding region was performed RHMs. Restriction enzyme digestion direct sequencing identified mutations RPL. Results Patients displayed between two six moles, 10 them presented other forms loss. Twelve (60%) homozygous for missense c.2248C > G (p.L750V), five (25%) heterozygous p.L750V c.1018 G > A (p.E340K) variant, three (15%) variant. Five (5%) control women four one man RPL (2%) p.E340K variant. Conclusions A total 60% our RHM mutations, 25% compound heterozygotes 15% Heterozygous frequently observed population. Homozygous also present Additional studies are needed understand role variant RHMs RPL. © 2013 John Wiley & Sons, Ltd.

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The p.L750V mutation in the NLRP7 gene is frequent in Mexican patients with recurrent molar pregnancies and is not associated with recurrent pregnancy loss.

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The p.L750V mutation in the NLRP7 gene is frequent in Mexican patients with recurrent molar pregnancies and is not associated with recurrent pregnancy loss.

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