{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T20:15:39Z","timestamp":1789848939451,"version":"4.0.1"},"reference-count":18,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,1,28]],"date-time":"2013-01-28T00:00:00Z","timestamp":1359331200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2013,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>The aim of this study is to analyze <jats:italic>NLRP7<\/jats:italic> mutation frequency in 20 Mexican patients with recurrent hydatidiform moles (RHMs).<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients<\/jats:title><jats:p>Twenty patients with RHMs, 50 couples with recurrent pregnancy loss (RPL), and 100 controls were included in the study. Molecular analysis of the <jats:italic>NLRP7<\/jats:italic> coding region was performed in patients with RHMs. Restriction enzyme digestion analysis and direct sequencing of the identified mutations were performed in controls and patients with RPL.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Patients displayed between two and six moles, and 10 of them presented other forms of pregnancy loss. Twelve (60%) patients were homozygous for the missense mutation c.2248C\u2009&gt;\u2009G (p.L750V), five (25%) patients were heterozygous for the p.L750V mutation and the c.1018\u2009G\u2009&gt;\u2009A (p.E340K) variant, and three (15%) patients were heterozygous for the c.1018\u2009G\u2009&gt;\u2009A (p.E340K) variant. Five (5%) control women and four women and one man (5%) with RPL were heterozygous for the p.L750V mutation and two (2%) patients with RPL were heterozygous for the p.E340K variant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>A total of 60% of our RHM patients presented homozygous p.L750V mutations, 25% were compound heterozygotes for p.L750V mutation and the p.E340K variant, and 15% were heterozygous for p.E340K variant. Heterozygous p.L750V mutations were frequently observed in our population. Homozygous mutations were also present in patients with RHMs. Additional studies are needed to understand the role of the p.E340K variant in RHMs and RPL. \u00a9 2013 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.4036","type":"journal-article","created":{"date-parts":[[2013,1,28]],"date-time":"2013-01-28T09:59:27Z","timestamp":1359367167000},"page":"205-208","source":"Crossref","is-referenced-by-count":20,"title":["The p.L750V mutation in the <i>NLRP7<\/i> gene is frequent in Mexican patients with recurrent molar pregnancies and is not associated with recurrent pregnancy loss"],"prefix":"10.1002","volume":"33","author":[{"given":"Higinio","family":"Estrada","sequence":"first","affiliation":[{"name":"Genetics Department Instituto Nacional de Perinatolog\u00eda  Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatriz","family":"Buentello","sequence":"additional","affiliation":[{"name":"Genetics Department\u2010Research Unit Institute of Ophthalmology \u2018Conde de Valenciana\u2019  Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Carlos","family":"Zenteno","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Medicine, UNAM. Research Unit and Genetics Department Institute of Ophthalmology \u2018Conde de Valenciana\u2019  Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Fiszman","sequence":"additional","affiliation":[{"name":"Genetics Department Instituto Nacional de Perinatolog\u00eda  Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00f3nica","family":"Aguinaga","sequence":"additional","affiliation":[{"name":"Genetics Department Instituto Nacional de Perinatolog\u00eda  Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,1,28]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"155","article-title":"Advances in the epidemiology of gestational trophoblastic disease","volume":"39","author":"Palmer JR","year":"1994","journal-title":"J Reprod Med"},{"key":"e_1_2_5_3_1","first-page":"478","article-title":"Gestational trophoblastic disease. 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