{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T08:28:53Z","timestamp":1767860933642,"version":"3.49.0"},"reference-count":37,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2012,1,3]]},"published-print":{"date-parts":[[2012,3]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>\n                     <jats:italic>NLRP7<\/jats:italic> (<jats:italic>NALP7<\/jats:italic>) has been identified as the major gene involved in the inherited predisposition to recurrent molar pregnancies, a rare recessive condition in which affected individuals have complete hydatidiform moles of diploid biparental origin (BiCHM). The role of <jats:italic>NLRP7<\/jats:italic> in other types of molar pregnancy and reproductive wastage has not been conclusively demonstrated. The purpose of this study was to clarify this by identifying <jats:italic>NLRP7<\/jats:italic> variation in two clinically well-defined groups of patients: women with recurrent BiCHM, and women with three or more recurrent complete hydatidiform moles of proven androgenetic origin (AnCHM).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Fluorescent microsatellite genotyping of molar tissue was used to establish a diagnosis of recurrent BiCHM (four novel cases) or recurrent AnCHM (nine women with multiple CHM). These two groups were subsequently screened for mutations in <jats:italic>NLRP7<\/jats:italic> using DNA sequencing. Additional screening for non-pathological variants was performed in 21 previously published cases of recurrent BiCHM. Taqman genotyping was used to determine the frequency of novel <jats:italic>NLRP7<\/jats:italic> variants in two control cohorts of Caucasian and Asian women with no adverse reproductive outcomes.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Of the four novel cases with recurrent BiCHM, two were homozygous for mutations in <jats:italic>NLRP7<\/jats:italic> while one was a compound heterozygote for a nonsense mutation and a pathological variant. No <jats:italic>NLRP7<\/jats:italic> mutations or pathological variants were identified in the fourth case. None of the women with AnCHM carried any mutations or pathological variants of <jats:italic>NLRP7<\/jats:italic>. A single case of AnCHM was found to be heterozygous for a novel variant (R413Q).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>\n                     <jats:italic>NLRP7<\/jats:italic> mutations do not represent a major cause of AnCHM.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmedgenet-2011-100602","type":"journal-article","created":{"date-parts":[[2012,2,9]],"date-time":"2012-02-09T00:50:39Z","timestamp":1328748639000},"page":"206-211","source":"Crossref","is-referenced-by-count":37,"title":["Mutations in <i>NLRP7<\/i> are associated with diploid biparental hydatidiform moles, but not androgenetic complete moles"],"prefix":"10.1136","volume":"49","author":[{"given":"Peter H","family":"Dixon","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pirada","family":"Trongwongsa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shadi","family":"Abu-Hayyah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sze Hwei","family":"Ng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Syed Ali","family":"Akbar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nuzhat P","family":"Khawaja","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael J","family":"Seckl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philip M","family":"Savage","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosemary A","family":"Fisher","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2012,2,7]]},"reference":[{"key":"2025100520422019000_49.3.206.1","first-page":"41","article-title":"The demographics of molar pregnancies in England and Wales from 2000-2009","volume":"5","author":"Savage","year":"2010","journal-title":"J Reprod Med"},{"key":"2025100520422019000_49.3.206.2","doi-asserted-by":"publisher","DOI":"10.1038\/268633a0"},{"key":"2025100520422019000_49.3.206.3","doi-asserted-by":"publisher","DOI":"10.1086\/302951"},{"key":"2025100520422019000_49.3.206.4","doi-asserted-by":"publisher","DOI":"10.1046\/j.1471-0528.2003.02388.x"},{"key":"2025100520422019000_49.3.206.5","doi-asserted-by":"publisher","DOI":"10.1007\/s004390051071"},{"key":"2025100520422019000_49.3.206.6","first-page":"595","article-title":"Familial recurrent hydatidiform mole: a review","volume":"49","author":"Fisher","year":"2004","journal-title":"J Reprod Med"},{"key":"2025100520422019000_49.3.206.7","doi-asserted-by":"publisher","DOI":"10.1053\/plac.2002.0939"},{"key":"2025100520422019000_49.3.206.8","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/15.3.594"},{"key":"2025100520422019000_49.3.206.9","doi-asserted-by":"publisher","DOI":"10.1038\/ng1740"},{"key":"2025100520422019000_49.3.206.10","doi-asserted-by":"publisher","DOI":"10.1093\/molehr\/gam079"},{"key":"2025100520422019000_49.3.206.11","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn418"},{"key":"2025100520422019000_49.3.206.12","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.064196"},{"key":"2025100520422019000_49.3.206.13","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20993"},{"key":"2025100520422019000_49.3.206.14","doi-asserted-by":"publisher","DOI":"10.1016\/j.placenta.2010.09.003"},{"key":"2025100520422019000_49.3.206.15","doi-asserted-by":"publisher","DOI":"10.1093\/molehr\/gar027"},{"key":"2025100520422019000_49.3.206.16","doi-asserted-by":"publisher","DOI":"10.1097\/PGP.0b013e31820dc3b0"},{"key":"2025100520422019000_49.3.206.17","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01189.x"},{"key":"2025100520422019000_49.3.206.18","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1002\/humu.9498","article-title":"Women heterozygous for NALP7\/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations","volume":"28","author":"Qian","year":"2007","journal-title":"Hum Mutat"},{"key":"2025100520422019000_49.3.206.19","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2011.089144"},{"key":"2025100520422019000_49.3.206.20","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"2025100520422019000_49.3.206.21","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01098.x"},{"key":"2025100520422019000_49.3.206.22","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-0528.2006.00929.x"},{"key":"2025100520422019000_49.3.206.23","doi-asserted-by":"publisher","DOI":"10.1080\/00016340902859307"},{"key":"2025100520422019000_49.3.206.24","unstructured":"http:\/\/genetics.bwh.harvard.edu\/pph2\/"},{"key":"2025100520422019000_49.3.206.25","unstructured":"http:\/\/www.ncbi.nlm.nih.gov\/projects\/SNP\/"},{"key":"2025100520422019000_49.3.206.26","first-page":"868","article-title":"Hydatidiform mole and fetus with normal karyotype: support of a separate entity","volume":"77","author":"Vejerslev","year":"1991","journal-title":"Obstet Gynecol"},{"key":"2025100520422019000_49.3.206.27","doi-asserted-by":"publisher","DOI":"10.1016\/0165-4608(93)90142-9"},{"key":"2025100520422019000_49.3.206.28","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.8.e95"},{"key":"2025100520422019000_49.3.206.29","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejogrb.2011.02.019"},{"key":"2025100520422019000_49.3.206.30","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.08.002"},{"key":"2025100520422019000_49.3.206.31","unstructured":"http:\/\/www.1000genomes.org"},{"key":"2025100520422019000_49.3.206.32","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(00)02432-6"},{"key":"2025100520422019000_49.3.206.33","doi-asserted-by":"publisher","DOI":"10.1016\/S1472-6483(10)60077-6"},{"key":"2025100520422019000_49.3.206.34","doi-asserted-by":"publisher","DOI":"10.1038\/416539a"},{"key":"2025100520422019000_49.3.206.35","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.26.3267"},{"key":"2025100520422019000_49.3.206.36","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg152"},{"key":"2025100520422019000_49.3.206.37","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(11)61751-0"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmedgenet-2011-100602","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T03:42:31Z","timestamp":1759722151000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmedgenet-2011-100602"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,2,7]]},"references-count":37,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2012,2,24]]},"published-print":{"date-parts":[[2012,3]]}},"alternative-id":["10.1136\/jmedgenet-2011-100602"],"URL":"https:\/\/doi.org\/10.1136\/jmedgenet-2011-100602","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,2,7]]}}}