TY  - JOUR
AU  - Alves, C. A. P. F.
AU  - Sherbini, O.
AU  - D’Arco, F.
AU  - Steel, D.
AU  - Kurian, M. A.
AU  - Radio, F. C.
AU  - Ferrero, G. B.
AU  - Carli, D.
AU  - Tartaglia, M.
AU  - Balci, T. B.
AU  - Powell-Hamilton, N. N.
AU  - Schrier Vergano, S. A.
AU  - Reutter, H.
AU  - Hoefele, J.
AU  - Günthner, R.
AU  - Roeder, E. R.
AU  - Littlejohn, R. O.
AU  - Lessel, D.
AU  - Lüttgen, S.
AU  - Kentros, C.
AU  - Anyane-Yeboa, K.
AU  - Catarino, C. B.
AU  - Mercimek-Andrews, S.
AU  - Denecke, Jannis
AU  - Lyons, M. J.
AU  - Klopstock, Thomas
AU  - Bhoj, E. J.
AU  - Bryant, L.
AU  - Vanderver, A.
TI  - Brain Abnormalities in Patients with Germline Variants in H3F3 : Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors
JO  - American journal of neuroradiology
VL  - 43
IS  - 7
SN  - 0195-6108
CY  - Oak Brook, Ill.
PB  - Soc.
M1  - DZNE-2022-01272
SP  - 1048 - 1053
PY  - 2022
AB  - 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
KW  - Brain: diagnostic imaging
KW  - Brain: pathology
KW  - Brain Neoplasms: diagnostic imaging
KW  - Brain Neoplasms: genetics
KW  - Brain Neoplasms: pathology
KW  - Child
KW  - Germ Cells: pathology
KW  - Histones: genetics
KW  - Humans
KW  - Male
KW  - Malformations of Cortical Development: pathology
KW  - Neurodevelopmental Disorders: pathology
KW  - Retrospective Studies
LB  - PUB:(DE-HGF)16
C2  - pmc:PMC9262070
C6  - pmid:35772801
DO  - DOI:10.3174/ajnr.A7555
UR  - https://pub.dzne.de/record/164828
ER  -