{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:49:46Z","timestamp":1786978186600,"version":"build-2736575974"},"reference-count":13,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,11,4]],"date-time":"2018-11-04T00:00:00Z","timestamp":1541289600000},"content-version":"vor","delay-in-days":3,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen & Gen Med"],"published-print":{"date-parts":[[2018,11]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n \n Mutations in the HECT domain of\n NEDD4L<\/jats:italic>\n have recently been identified in a cohort of eight patients with a syndromic form of bilateral periventricular nodular heterotopia (PVNH) in association with neurodevelopmental delay, cleft palate, and toe syndactyly (PVNH7).\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n Case report based on NGS sequencing.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Here, we describe a girl with a novel heterozygous\n NEDD4L<\/jats:italic>\n missense variant, p.Tyr679His, and characteristic clinical findings, including bilateral periventricular nodular heterotopia, cleft palate and mild toe syndactyly. Molecular testing from peripheral blood identified the healthy father to carry the\n NEDD4L<\/jats:italic>\n variant in mosaic state. Notably, a previous pregnancy of the couple had been terminated due to a complex fetal developmental disorder, including hypokinesia and flexion contractures. Upon review, this affected fetus was also shown to carry the familial\n NEDD4L<\/jats:italic>\n variant.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n Our findings may suggest a broader spectrum of\n NEDD4L<\/jats:italic>\n \u2010associated phenotypes, including severe prenatal neurodevelopmental manifestations, which might represent yet another genetic form of fetal hypokinesia with flexion contractures.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/mgg3.490","type":"journal-article","created":{"date-parts":[[2018,11,4]],"date-time":"2018-11-04T23:49:05Z","timestamp":1541375345000},"page":"1255-1260","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Familial\n NEDD4L<\/i>\n variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures"],"prefix":"10.1002","volume":"6","author":[{"given":"Miriam","family":"Elbracht","sequence":"first","affiliation":[{"name":"Institute of Human Genetics, Medical Faculty RWTH Aachen University Aachen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florian","family":"Kraft","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Medical Faculty RWTH Aachen University Aachen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Begemann","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Medical Faculty RWTH Aachen University Aachen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"Holschbach","sequence":"additional","affiliation":[{"name":"Division of Neuropediatrics and Social Pediatrics, Department of Pediatrics, Medical Faculty RWTH Aachen University Aachen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Mull","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Interventional Neuroradiology, Medical Faculty RWTH Aachen University Aachen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ildiko M.","family":"Kabat","sequence":"additional","affiliation":[{"name":"Department of Radiology, Radiologie Universit\u00e4t Bonn Ildiko M. Kabat University Hospital Bonn Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Britta","family":"M\u00fcller","sequence":"additional","affiliation":[{"name":"Division of Neuropediatrics and Social Pediatrics, Department of Pediatrics, Medical Faculty RWTH Aachen University Aachen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"H\u00e4usler","sequence":"additional","affiliation":[{"name":"Division of Neuropediatrics and Social Pediatrics, Department of Pediatrics, Medical Faculty RWTH Aachen University Aachen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5642-8378","authenticated-orcid":false,"given":"Ingo","family":"Kurth","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Medical Faculty RWTH Aachen University Aachen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ute","family":"Hehr","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Medical Center University of Regensburg Regensburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,11,4]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.12340"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3676"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20131275"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.str.2014.08.016"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181b529b1"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1007281"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2017.53"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0331-9"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc1714579"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13277-015-4328-8"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/MNH.0000000000000097"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcu.22350"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2014.05.003"}],"container-title":["Molecular Genetics & Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmgg3.490","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.490","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T19:28:32Z","timestamp":1694806112000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.490"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,11]]},"references-count":13,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2018,11]]}},"alternative-id":["10.1002\/mgg3.490"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.490","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,11]]},"assertion":[{"value":"2018-07-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-10-02","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-11-04","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}