%0 Journal Article
%A Alves, C. A. P. F.
%A Sherbini, O.
%A D’Arco, F.
%A Steel, D.
%A Kurian, M. A.
%A Radio, F. C.
%A Ferrero, G. B.
%A Carli, D.
%A Tartaglia, M.
%A Balci, T. B.
%A Powell-Hamilton, N. N.
%A Schrier Vergano, S. A.
%A Reutter, H.
%A Hoefele, J.
%A Günthner, R.
%A Roeder, E. R.
%A Littlejohn, R. O.
%A Lessel, D.
%A Lüttgen, S.
%A Kentros, C.
%A Anyane-Yeboa, K.
%A Catarino, C. B.
%A Mercimek-Andrews, S.
%A Denecke, Jannis
%A Lyons, M. J.
%A Klopstock, Thomas
%A Bhoj, E. J.
%A Bryant, L.
%A Vanderver, A.
%T Brain Abnormalities in Patients with Germline Variants in H3F3 : Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors
%J American journal of neuroradiology
%V 43
%N 7
%@ 0195-6108
%C Oak Brook, Ill.
%I Soc.
%M DZNE-2022-01272
%P 1048 - 1053
%D 2022
%X Pathogenic somatic variants affecting the genes Histone 3 Family 3A and 3B (H3F3) are extensively linked to the process of oncogenesis, in particular related to central nervous system tumors in children. Recently, H3F3 germline missense variants were described as the cause of a novel pediatric neurodevelopmental disorder. We aimed to investigate patterns of brain MR imaging of individuals carrying H3F3 germline variants.Materials and methods: In this retrospective study, we included individuals with proved H3F3 causative genetic variants and available brain MR imaging scans. Clinical and demographic data were retrieved from available medical records. Molecular genetic testing results were classified using the American College of Medical Genetics criteria for variant curation. Brain MR imaging abnormalities were analyzed according to their location, signal intensity, and associated clinical symptoms. Numeric variables were described according to their distribution, with median and interquartile range.Results: Eighteen individuals (10 males, 56
%K Brain: diagnostic imaging
%K Brain: pathology
%K Brain Neoplasms: diagnostic imaging
%K Brain Neoplasms: genetics
%K Brain Neoplasms: pathology
%K Child
%K Germ Cells: pathology
%K Histones: genetics
%K Humans
%K Male
%K Malformations of Cortical Development: pathology
%K Neurodevelopmental Disorders: pathology
%K Retrospective Studies
%F PUB:(DE-HGF)16
%9 Journal Article
%2 pmc:PMC9262070
%$ pmid:35772801
%R 10.3174/ajnr.A7555
%U https://pub.dzne.de/record/164828