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@ARTICLE{Alves:164828,
      author       = {Alves, C. A. P. F. and Sherbini, O. and D’Arco, F. and
                      Steel, D. and Kurian, M. A. and Radio, F. C. and Ferrero, G.
                      B. and Carli, D. and Tartaglia, M. and Balci, T. B. and
                      Powell-Hamilton, N. N. and Schrier Vergano, S. A. and
                      Reutter, H. and Hoefele, J. and Günthner, R. and Roeder, E.
                      R. and Littlejohn, R. O. and Lessel, D. and Lüttgen, S. and
                      Kentros, C. and Anyane-Yeboa, K. and Catarino, C. B. and
                      Mercimek-Andrews, S. and Denecke, Jannis and Lyons, M. J.
                      and Klopstock, Thomas and Bhoj, E. J. and Bryant, L. and
                      Vanderver, A.},
      title        = {{B}rain {A}bnormalities in {P}atients with {G}ermline
                      {V}ariants in {H}3{F}3 : {N}ovel {I}maging {F}indings and
                      {N}eurologic {S}ymptoms {B}eyond {S}omatic {V}ariants and
                      {B}rain {T}umors},
      journal      = {American journal of neuroradiology},
      volume       = {43},
      number       = {7},
      issn         = {0195-6108},
      address      = {Oak Brook, Ill.},
      publisher    = {Soc.},
      reportid     = {DZNE-2022-01272},
      pages        = {1048 - 1053},
      year         = {2022},
      abstract     = {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, $56\%)$ with
                      H3F3 germline variants were included. Thirteen of 18
                      individuals $(72\%)$ presented with a small posterior fossa.
                      Six individuals $(33\%)$ presented with reduced size and an
                      internal rotational appearance of the heads of the caudate
                      nuclei along with an enlarged and squared appearance of the
                      frontal horns of the lateral ventricles. Five individuals
                      $(28\%)$ presented with dysgenesis of the splenium of the
                      corpus callosum. Cortical developmental abnormalities were
                      noted in 8 individuals $(44\%),$ with dysgyria and
                      hypoplastic temporal poles being the most frequent
                      presentation.Conclusions: Imaging phenotypes in germline
                      H3F3-affected individuals are related to brain features,
                      including a small posterior fossa as well as dysgenesis of
                      the corpus callosum, cortical developmental abnormalities,
                      and deformity of lateral ventricles.},
      keywords     = {Brain: diagnostic imaging / Brain: pathology / Brain
                      Neoplasms: diagnostic imaging / Brain Neoplasms: genetics /
                      Brain Neoplasms: pathology / Child / Germ Cells: pathology /
                      Histones: genetics / Humans / Male / Malformations of
                      Cortical Development: pathology / Neurodevelopmental
                      Disorders: pathology / Retrospective Studies},
      cin          = {AG Höglinger 2},
      ddc          = {610},
      cid          = {I:(DE-2719)1111015},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pmc          = {pmc:PMC9262070},
      pubmed       = {pmid:35772801},
      doi          = {10.3174/ajnr.A7555},
      url          = {https://pub.dzne.de/record/164828},
}