{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T01:23:07Z","timestamp":1773796987682,"version":"3.50.1"},"reference-count":11,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2024,1,12]],"date-time":"2024-01-12T00:00:00Z","timestamp":1705017600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,1,12]],"date-time":"2024-01-12T00:00:00Z","timestamp":1705017600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Childs Nerv Syst"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pathogenic variants in <jats:italic>RAC3<\/jats:italic> cause a neurodevelopmental disorder with brain malformations and craniofacial dysmorphism, called NEDBAF. This gene encodes a small GTPase, which plays a critical role in neurogenesis and neuronal migration. We report a 31\u00a0weeks of gestation fetus with triventricular dilatation, and temporal and perisylvian polymicrogyria, without cerebellar, brainstem, or callosal anomalies. Trio whole exome sequencing identified a <jats:italic>RAC3<\/jats:italic> (NM_005052.3, GRCh38) probably pathogenic <jats:italic>de novo<\/jats:italic> variant c.276\u00a0T&gt;A p.(Asn92Lys). Eighteen patients harboring 13 different and essentially <jats:italic>de novo<\/jats:italic> missense <jats:italic>RAC3<\/jats:italic> variants were previously reported. All the patients presented with corpus callosum malformations. Gyration disorders, ventriculomegaly (VM), and brainstem and cerebellar malformations have frequently been described. The only previous prenatal case associated with <jats:italic>RAC3<\/jats:italic> variant presented with complex brain malformations, mainly consisting of midline and posterior fossa anomalies. We report the second prenatal case of NEDBAF presenting an undescribed pattern of cerebral anomalies, including VM and polymicrogyria, without callosal, cerebellar, or brainstem malformations. All neuroimaging data were reviewed to clarify the spectrum of cerebral malformations.<\/jats:p>","DOI":"10.1007\/s00381-024-06285-z","type":"journal-article","created":{"date-parts":[[2024,1,12]],"date-time":"2024-01-12T05:02:03Z","timestamp":1705035723000},"page":"1597-1602","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["An unusual presentation of de novo RAC3 variation in prenatal diagnosis"],"prefix":"10.1007","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-7807-8594","authenticated-orcid":false,"given":"Colombine","family":"Meunier","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2766-1805","authenticated-orcid":false,"given":"Marie","family":"Cassart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karole","family":"Kostyla","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1162-3214","authenticated-orcid":false,"given":"Nicolas","family":"Simonis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3236-0807","authenticated-orcid":false,"given":"Olivier","family":"Monestier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7596-4686","authenticated-orcid":false,"given":"Aude","family":"Tessier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,1,12]]},"reference":[{"key":"6285_CR1","doi-asserted-by":"publisher","first-page":"1021","DOI":"10.1038\/s41436-018-0323-y","volume":"21","author":"G Costain","year":"2019","unstructured":"Costain G, Callewaert B, Gabriel H, Tan TY, Walker S, Christodoulou J, Lazar T, Menten B, Orkin J, Sadedin S, Snell M, Vanlander A, Vergult S, White SM, Scherer SW, Hayeems RZ, Blaser S, Wodak SJ, Chitayat D, Marshall CR, Meyn MS (2019) De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome. 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Informed consent was obtained from legal guardians. Termination of pregnancy was performed according to Belgian law.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}