{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T01:53:06Z","timestamp":1790819586046,"version":"4.1.0"},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,9,25]],"date-time":"2021-09-25T00:00:00Z","timestamp":1632528000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>NudE Neurodevelopment Protein 1 (<jats:italic>NDE1<\/jats:italic>) gene encodes a protein required for microtubule organization, mitosis, and neuronal migration. Biallelic pathogenic variants of <jats:italic>NDE1<\/jats:italic> gene are associated with structural central nervous system abnormalities, specifically microlissencephaly and microhydranencephaly. The root of these different phenotypes remains unclear. Here, we report a 20\u2010year\u2010old male patient referred to our clinics due to severe microcephaly, developmental delay, spastic quadriplegia, and dysmorphic features. The cranial computed tomography revealed abnormal brain structure and excess of cerebrospinal fluid, consistent with microhydranencephaly. A homozygous c.684_685del, p.(Pro229TrpfsTer85) change in <jats:italic>NDE1<\/jats:italic> gene was found by clinical exome analysis. The variant has previously been reported in individuals with microlissencephaly, therefore we propose that the same variant within the gene may cause either microlissencephaly or microhydranencephaly phenotypes. There are only a few papers about <jats:italic>NDE1<\/jats:italic>\u2010related disorders in the literature and the patient we described is important to clarify the phenotypic spectrum of the disease.<\/jats:p>","DOI":"10.1002\/ajmg.a.62508","type":"journal-article","created":{"date-parts":[[2021,9,25]],"date-time":"2021-09-25T11:11:06Z","timestamp":1632568266000},"page":"326-331","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["<scp><i>NDE1<\/i><\/scp>\u2010related disorders: A recurrent <scp><i>NDE1<\/i><\/scp> pathogenic variant causing Lissencephaly 4 can also be associated with microhydranencephaly"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3475-564X","authenticated-orcid":false,"given":"Hasan","family":"Bas","sequence":"first","affiliation":[{"name":"Faculty of Medicine, Department of Medical Genetics Eskisehir Osmangazi University  Eski\u015fehir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzan","family":"Saylisoy","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Radiology Eskisehir Osmangazi University  Eski\u015fehir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oguz","family":"Cilingir","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Medical Genetics Eskisehir Osmangazi University  Eski\u015fehir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ebru Erzurumluoglu","family":"Gokalp","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Medical Genetics Eskisehir Osmangazi University  Eski\u015fehir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2595-3919","authenticated-orcid":false,"given":"Sinem","family":"Kocagil","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Medical Genetics Eskisehir Osmangazi University  Eski\u015fehir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Coskun","family":"Yarar","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Pediatric Neurology Eskisehir Osmangazi University  Eski\u015fehir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beyhan Durak","family":"Aras","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Medical Genetics Eskisehir Osmangazi University  Eski\u015fehir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sevilhan","family":"Artan","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Medical Genetics Eskisehir Osmangazi University  Eski\u015fehir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,9,25]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61035"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.04.003"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.03.019"},{"issue":"3","key":"e_1_2_8_5_1","first-page":"183","article-title":"Signs and symptoms of genetic conditions\u2014A handbook","volume":"3","author":"Bodurtha J. 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