{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T08:02:10Z","timestamp":1772956930833,"version":"3.50.1"},"reference-count":82,"publisher":"Archives of Pathology and Laboratory Medicine","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2012,6]]},"abstract":"\n Context<\/jats:italic>\n .\u2014Hydatidiform 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\n NLRP7<\/jats:italic>\n gene.\n <\/jats:p>\n \n Objective<\/jats:italic>\n .\u2014To investigate whether\n NLRP7<\/jats:italic>\n mutations exist in Tunisian women with sporadic hydatidiform moles.\n <\/jats:p>\n \n Design<\/jats:italic>\n .\u2014Genomic DNA from 38 unrelated Tunisian patients with sporadic hydatidiform moles were screened by sequencing all\n NLRP7<\/jats:italic>\n exons. A high-resolution melting curve analysis was performed on 170 DNA controls to analyze new sequence variants.\n <\/jats:p>\n \n Results<\/jats:italic>\n .\u2014More than 13% of these patients were heterozygous for\n NLRP7<\/jats:italic>\n 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.\n <\/jats:p>\n \n Conclusion<\/jats:italic>\n .\u2014As homozygous\n NLRP7<\/jats:italic>\n mutations are associated with recurrent hydatidiform mole or conception loss, the heterozygous state could represent a risk factor for nonrecurrent mole.\n <\/jats:p>","DOI":"10.5858\/arpa.2011-0399-oa","type":"journal-article","created":{"date-parts":[[2012,5,30]],"date-time":"2012-05-30T12:57:32Z","timestamp":1338382652000},"page":"646-651","source":"Crossref","is-referenced-by-count":12,"title":["NLRP7 Mutation Analysis in Sporadic Hydatidiform Moles in Tunisian Patients: NLRP7 and Sporadic Mole"],"prefix":"10.5858","volume":"136","author":[{"given":"Han\u00e8ne","family":"Landolsi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u00e9cile","family":"Rittore","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurent","family":"Philibert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sihem","family":"Hmissa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moez","family":"Gribaa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Touitou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed Tahar","family":"Yacoubi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"3906","reference":[{"issue":"1","key":"i1543-2165-136-6-646-b01","series-title":"BJOG","first-page":"22","article-title":"Risk of recurrent hydatidiform mole and subsequent pregnancy outcome following complete or partial hydatidiform molar pregnancy","volume":"110","author":"Sebire\n NJ,","year":"2003","unstructured":"Sebire\n NJ, \n \n Fisher\n RA, \n \n Foskett\n M, \n \n Rees\n H, \n \n Seckl\n MJ, \n \n Newlands\n ES\n \n . 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