{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:46:49Z","timestamp":1787014009239,"version":"build-2736575974"},"reference-count":9,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,2,23]],"date-time":"2021-02-23T00:00:00Z","timestamp":1614038400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81261120569"],"award-info":[{"award-number":["81261120569"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81370729"],"award-info":[{"award-number":["81370729"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Recurrent hydatidiform moles (RHMs) are human pregnancies with abnormal embryonic development and hyperproliferating trophoblast. Biallelic mutations in\n                    <jats:italic>NLRP7<\/jats:italic>\n                    and\n                    <jats:italic>KHDC3L,<\/jats:italic>\n                    members of the subcortical maternal complex (SCMC), explain the etiology of RHMs in only 60% of patients. Here we report the identification of seven functional variants in a recessive state in three SCMC members, five in\n                    <jats:italic>NLRP7<\/jats:italic>\n                    , one in\n                    <jats:italic>NLRP5,<\/jats:italic>\n                    and one in\n                    <jats:italic>PADI6<\/jats:italic>\n                    . In\n                    <jats:italic>NLRP5<\/jats:italic>\n                    , we report the first patient with RHMs and biallelic mutations. In\n                    <jats:italic>PADI6<\/jats:italic>\n                    , the patient had four molar pregnancies, two of which had fetuses with various abnormalities including placental mesenchymal dysplasia and intra\u2010uterine growth restriction, which are features of Beckwith\u2010Wiedemann syndrome and Silver Russell syndrome, respectively. Our findings corroborate recent studies and highlight the common oocyte origin of all these conditions and the continuous spectrum of abnormalities associated with deficiencies in the SCMC genes.\n                  <\/jats:p>","DOI":"10.1111\/cge.13941","type":"journal-article","created":{"date-parts":[[2021,2,14]],"date-time":"2021-02-14T12:58:57Z","timestamp":1613307537000},"page":"823-828","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":48,"title":["Novel pathogenic variants in\n                    <scp>\n                      <i>NLRP7<\/i>\n                    <\/scp>\n                    ,\n                    <scp>\n                      <i>NLRP5<\/i>\n                      ,\n                    <\/scp>\n                    and\n                    <scp>\n                      <i>PADI6<\/i>\n                    <\/scp>\n                    in patients with recurrent hydatidiform moles and reproductive failure"],"prefix":"10.1111","volume":"99","author":[{"given":"Maryam","family":"Rezaei","sequence":"first","affiliation":[{"name":"Department of Human Genetics McGill University Health Centre Research Institute  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beena","family":"Suresh","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics &amp; Genetic counselling Mediscan Systems  Chennai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Bereke","sequence":"additional","affiliation":[{"name":"Department of Human Genetics McGill University Health Centre Research Institute  Montreal Quebec Canada"},{"name":"Genome Quebec Innovation Centre  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zahra","family":"Hadipour","sequence":"additional","affiliation":[{"name":"Medical Genetics Department Atieh Research Center and Hospital  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Aguinaga","sequence":"additional","affiliation":[{"name":"Genetics and Genomics Department Instituto Nacional de Perinatologia  Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1320-6860","authenticated-orcid":false,"given":"Jianhua","family":"Qian","sequence":"additional","affiliation":[{"name":"Department of Gynecology The First Affiliated Hospital, Zhejiang University School of Medicine  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rashmi","family":"Bagga","sequence":"additional","affiliation":[{"name":"Department of Obstetrics &amp; Gynecology Post Graduate Institute of Medical, Education and Research, PGIMER  Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Majid","family":"Fardaei","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Shiraz University of Medical Sciences  Shiraz Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reda","family":"Hemida","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Mansoura University  Mansoura Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sujatha","family":"Jagadeesh","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics &amp; Genetic counselling Mediscan Systems  Chennai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacek","family":"Majewski","sequence":"additional","affiliation":[{"name":"Department of Human Genetics McGill University Health Centre Research Institute  Montreal Quebec Canada"},{"name":"Genome Quebec Innovation Centre  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4060-2159","authenticated-orcid":false,"given":"Rima","family":"Slim","sequence":"additional","affiliation":[{"name":"Department of Human Genetics McGill University Health Centre Research Institute  Montreal Quebec Canada"},{"name":"Departments of Obstetrics and Gynecology McGill University Health Centre  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,2,23]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1740"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.08.002"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2008.07.010"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41379-018-0031-9"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13148-020-00925-2"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0141-3"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.06.024"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-020-00762-0"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-019-0694-y"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13941","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.13941","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13941","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T11:48:48Z","timestamp":1693568928000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13941"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2,23]]},"references-count":9,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2021,6]]}},"alternative-id":["10.1111\/cge.13941"],"URL":"https:\/\/doi.org\/10.1111\/cge.13941","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.13941\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13941\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13941\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13941\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13941\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13941\/v2\/response1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,2,23]]},"assertion":[{"value":"2021-01-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-02-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-02-23","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}