{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T11:19:00Z","timestamp":1790680740852,"version":"4.1.0"},"reference-count":32,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2023,4,27]],"date-time":"2023-04-27T00:00:00Z","timestamp":1682553600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fetal intracranial hemorrhage (ICH) may result from a wide array of causes, either associated with maternal or fetal risk factors. In the last decade, monogenic causes of susceptibility to fetal ICH have been described, in particular in association with <jats:italic>COL4A1<\/jats:italic> and <jats:italic>COL4A2<\/jats:italic> genes. A peculiar form of ICH is acute necrotizing encephalitis (ANE), which is characterized by a rapid\u2010onset severe encephalopathy following an abnormal inflammatory response to an otherwise banal infection. It usually affects healthy children and it is thought to be multifactorial, with a genetic predisposition. <jats:italic>RANBP2<\/jats:italic> gene has been extensively associated with ANE susceptibility. We hereby present a unique case of a 42\u2010year\u2010old secundigravida with intrauterine fetal demise at 35\u2009weeks of gestation. Trio\u2010based whole\u2010exome sequencing performed on both parents and fetal DNA showed a de novo likely pathogenic variant in the <jats:italic>RANBP2<\/jats:italic> gene on 2q13. At the fetal autopsy, subtentorial hematoma and cerebral intraparenchymal hemorrhage were present. We speculate that this might be a new phenotypic presentation of <jats:italic>RANBP2<\/jats:italic>\u2010associated disease. However, more similar fetal cases need to be reported in order to reinforce this hypothesis.<\/jats:p>","DOI":"10.1002\/ajmg.a.63223","type":"journal-article","created":{"date-parts":[[2023,4,27]],"date-time":"2023-04-27T11:05:58Z","timestamp":1682593558000},"page":"1973-1977","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["De novo <scp><i>RANBP2<\/i><\/scp> variant in a fetal demise case with cerebral intraparenchymal hemorrhage"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8428-7162","authenticated-orcid":false,"given":"Anna","family":"Meroni","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology IRCCS San Matteo Foundation  Pavia Italy"},{"name":"Department of Clinical, Surgical, Diagnostic and Paediatric Sciences University of Pavia  Pavia 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