{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T13:36:12Z","timestamp":1791293772563,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,2,1]],"date-time":"2016-02-01T00:00:00Z","timestamp":1454284800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,5]]},"abstract":"<jats:sec><jats:label\/><jats:p>We describe the case of a young patient with calcifying encephalopathy, born to asymptomatic parents. An extensive hypothesis\u2010driven etiological assessment was performed and failed to detect the precise etiology during many years. We therefore decided to perform whole exome sequencing of the child\u2013unaffected parents trio. A <jats:italic>de novo<\/jats:italic> pathogenic variant in the <jats:italic>IFIH1<\/jats:italic> gene which has recently been shown to cause autosomal dominant forms of Aicardi\u2013Gouti\u00e8res syndrome was identified. This child presented with a severe form with neonatal thrombocytopenia and hepatomegaly, the latter having been detected during late gestation. Although first milestones were uneventful, he progressively lost motor skills from the age of 12 months and developed severe spastic paraplegia. Brain imaging revealed white matter abnormalities and extensive calcifications. He also presented atypical skin lesions, different from chilblains. His medical history was marked by two episodes of acute pancreatitis. We provide herein the results of pathological examination including detailed description of the neuropathological hallmarks. To our knowledge, this the first detailed clinico\u2010pathological description of a patient with an <jats:italic>IFIH1<\/jats:italic> pathogenic variant. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37577","type":"journal-article","created":{"date-parts":[[2016,2,1]],"date-time":"2016-02-01T11:39:48Z","timestamp":1454326788000},"page":"1317-1324","source":"Crossref","is-referenced-by-count":18,"title":["Clinical and pathologic features of Aicardi\u2013Gouti\u00e8res syndrome due to an <i>IFIH1<\/i> mutation: A pediatric case report"],"prefix":"10.1002","volume":"170","author":[{"given":"Florent","family":"Marguet","sequence":"first","affiliation":[{"name":"Pathology Laboratory Rouen University Hospital Rouen France"},{"name":"ERI28 \u201cNeoVasc\u201d Laboratory of Microvascular Endothelium and Neonatal Brain Lesions Rouen Institute for Biomedical Research University of Rouen Rouen 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