{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T15:47:49Z","timestamp":1762098469206},"reference-count":21,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2013,10,4]],"date-time":"2013-10-04T00:00:00Z","timestamp":1380844800000},"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":[[2013,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>The objective of this study was to evaluate the mutational spectrum of <jats:italic>NLRP7<\/jats:italic> and <jats:italic>KHDC3L<\/jats:italic> (<jats:italic>C6orf221<\/jats:italic>) in women with sporadic and recurrent androgenetic complete hydatidiform moles (AnCHM) and biparental hydatidiform moles (BiHM) to address the hypothesis that autosomal recessive mutations in these genes are only or primarily associated with BiHM.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>We recruited 16 women with suspected recurrent and sporadic AnCHM and five women with suspected BiHM in addition to their reproductive partners into our study. We then sequenced the coding exons of <jats:italic>NLRP7<\/jats:italic> and <jats:italic>KHDC3L<\/jats:italic> from DNA isolated from either blood or saliva from the study subjects.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Sequence analysis of <jats:italic>NLRP7<\/jats:italic> and <jats:italic>KHDC3L<\/jats:italic> revealed previously described single nucleotide polymorphisms in patients with AnCHM. However, in patients with BiHM, we identified a novel homozygous mutation and a previously described intragenic duplication of exons 2 to 5 in <jats:italic>NLRP7<\/jats:italic>, both of which are likely to be disease causing. We did not identify mutations in <jats:italic>KHDC3L<\/jats:italic> in patients with either form of hydatidiform moles.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The absence of mutations in women with AnCHM supports a role for <jats:italic>NLRP7<\/jats:italic> or <jats:italic>KHDC3L<\/jats:italic> in BiHM only. The absence of mutations in <jats:italic>KHDC3L<\/jats:italic> in women with BiHM is consistent with its minor role in this disease compared with <jats:italic>NLRP7<\/jats:italic>, the major BiHM gene. \u00a9 2013 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.4239","type":"journal-article","created":{"date-parts":[[2013,10,8]],"date-time":"2013-10-08T15:23:29Z","timestamp":1381245809000},"page":"1242-1247","source":"Crossref","is-referenced-by-count":13,"title":["No evidence for mutations in <i>NLRP7<\/i> and <i>KHDC3L<\/i> in women with androgenetic hydatidiform moles"],"prefix":"10.1002","volume":"33","author":[{"given":"Sangeetha","family":"Mahadevan","sequence":"first","affiliation":[{"name":"Interdepartmental Graduate Program in Translational Biology and Molecular Medicine Baylor College of Medicine  Houston TX USA"},{"name":"Department of Obstetrics and Gynecology Baylor College of Medicine  Houston TX USA"},{"name":"Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital  Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shu","family":"Wen","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Baylor College of Medicine  Houston TX USA"},{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alfred","family":"Balasa","sequence":"additional","affiliation":[{"name":"USDA\/ARS Children's Nutrition Research Center, Department of Pediatrics Baylor College of Medicine  Houston TX USA"},{"name":"Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital  Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gary","family":"Fruhman","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Baylor College of Medicine  Houston TX USA"},{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julio","family":"Mateus","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology University of Texas Medical Branch  Galveston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew","family":"Wagner","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology University of Oklahoma  Oklahoma City OK USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tarek","family":"Al\u2010Hussaini","sequence":"additional","affiliation":[{"name":"Women's Health Centre, Faculty of Medicine Assiut University  Assiut Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ignatia B.","family":"Van den Veyver","sequence":"additional","affiliation":[{"name":"Interdepartmental Graduate Program in Translational Biology and Molecular Medicine Baylor College of Medicine  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