{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,18]],"date-time":"2026-01-18T05:58:14Z","timestamp":1768715894404,"version":"3.49.0"},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,1,13]],"date-time":"2019-01-13T00:00:00Z","timestamp":1547337600000},"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":[[2019,3]]},"abstract":"<jats:p>Biallelic variants in the <jats:italic>NDE1<\/jats:italic> gene have been shown to occur in extreme microcephaly. Most of the patients displayed microlissencephaly but one with microhydranencephaly. We report on three sibs in which the brain MRI and CT scans demonstrated variable degree of reduced volume of cerebral hemispheres and ventriculomegaly. Further, they had agenesis of corpus callosum, cerebellar, and brainstem hypoplasia. Fetal ultrasound at 32\u2009weeks' gestation of the third sib revealed severe micrencephaly with extensive hydranencephaly and an anomaly consistent with non cleaved (fused) thalami. Because of the fused thalami, the <jats:italic>STIL<\/jats:italic> gene was targeted initially but showed negative results. His postnatal MRI showed that the cerebral hemispheres are markedly reduced in size (with no definite frontal, parietal, or occipital lobes) and replaced by a large sac filled with CSF. An intact falx cerebri was identified. This extensive hydarencephaly led us to consider the <jats:italic>NDE1<\/jats:italic> and to identify a novel homozygous nonsense variant (c.54G&gt;A, p.W18*). The variability of the degree of brain malformations and the apparent fusion of the thalami were illusive and delayed the recognition of the genetic etiology. Our results provide the first antenatal description of this rare syndrome. Further, we expand the genetic architecture and the neuroradiologic phenotype of <jats:italic>NDE1<\/jats:italic>\u2010related disorders.<\/jats:p>","DOI":"10.1002\/ajmg.a.61035","type":"journal-article","created":{"date-parts":[[2019,1,14]],"date-time":"2019-01-14T05:22:01Z","timestamp":1547443321000},"page":"494-497","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Phenotypic spectrum of <i>NDE1<\/i>\u2010related disorders: from microlissencephaly to microhydranencephaly"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2480-0147","authenticated-orcid":false,"given":"Mohamed S.","family":"Abdel\u2010Hamid","sequence":"first","affiliation":[{"name":"Medical Molecular Genetics Department, Human Genetics and Genome Research Division National Research Centre  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara H.","family":"El\u2010Dessouky","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Division National Research Centre  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed I.","family":"Ateya","sequence":"additional","affiliation":[{"name":"Fetal Medicine Unit Cairo University  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hassan M.","family":"Gaafar","sequence":"additional","affiliation":[{"name":"Fetal Medicine Unit Cairo University  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2893-8802","authenticated-orcid":false,"given":"Ghada M.H.","family":"Abdel\u2010Salam","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, Human Genetics and Genome Research Division National Research Centre  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,1,13]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37724"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.03.019"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.03.019"},{"key":"e_1_2_7_5_1","first-page":"367","volume-title":"Pediatric Neuroimaging","author":"Barkovich A. 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