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Research ArticleBrain Tumor Imaging

Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors

C.A.P.F. Alves, O. Sherbini, F. D’Arco, D. Steel, M.A. Kurian, F.C. Radio, G.B. Ferrero, D. Carli, M. Tartaglia, T.B. Balci, N.N. Powell-Hamilton, S.A. Schrier Vergano, H. Reutter, J. Hoefele, R. Günthner, E.R. Roeder, R.O. Littlejohn, D. Lessel, S. Lüttgen, C. Kentros, K. Anyane-Yeboa, C.B. Catarino, S. Mercimek-Andrews, J. Denecke, M.J. Lyons, T. Klopstock, E.J. Bhoj, L. Bryant and A. Vanderver
American Journal of Neuroradiology July 2022, 43 (7) 1048-1053; DOI: https://doi.org/10.3174/ajnr.A7555
C.A.P.F. Alves
aFrom the Division of Neuroradiology (C.A.P.F.A.)
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O. Sherbini
aaDepartment of Neurology (O.S., A.V.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania
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F. D’Arco
dDepartments of Radiology (F.D.)
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D. Steel
eNeurology (D.S., M.A.K.), Great Ormond Street Hospital for Children, London, UK
fMolecular Neurosciences (D.S., M.A.K.), Zayed Centre for Research into Rare Diseases in Children, UCL GOS-Institute of Child Health, London, UK
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M.A. Kurian
eNeurology (D.S., M.A.K.), Great Ormond Street Hospital for Children, London, UK
fMolecular Neurosciences (D.S., M.A.K.), Zayed Centre for Research into Rare Diseases in Children, UCL GOS-Institute of Child Health, London, UK
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F.C. Radio
gGenetics and Rare Diseases Research Division (F.C.R., M.T.), Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
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G.B. Ferrero
hDepartment of Public Health and Pediatrics (G.B.F., D.C.),University of Torino, Turin, Italy
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D. Carli
hDepartment of Public Health and Pediatrics (G.B.F., D.C.),University of Torino, Turin, Italy
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M. Tartaglia
gGenetics and Rare Diseases Research Division (F.C.R., M.T.), Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
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T.B. Balci
iMedicalGenetics Programof Southwestern Ontario (T.B.B.), London Health Sciences Centre, London, Ontario, Canada
jDepartment of Paediatrics (T.B.B.),Western University, London, Ontario, Canada
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N.N. Powell-Hamilton
kDivision of Medical Genetics (N.N.P.-H.), Nemours Childrenșs Hospital, Wilmington, Delaware
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S.A. Schrier Vergano
lDivision of Medical Genetics and Metabolism (S.A.S.V.), Childrenșs Hospital of The Kingșs Daughters, Norfolk, Virginia
mDepartment of Pediatrics (S.A.S.V.), Eastern Virginia Medical School, Norfolk, Virginia
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H. Reutter
nDivision of Neonatology and Pediatric Intensive Care (H.R.), Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander University Nürnberg-Erlangen, Erlangen, Germany
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J. Hoefele
oInstitute of Human Genetics (J.H., R.G.)
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R. Günthner
oInstitute of Human Genetics (J.H., R.G.)
pDepartment of Nephrology (R.G.), Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, Germany
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E.R. Roeder
qDepartment of Pediatrics and Molecular and Human Genetics (E.R.R., R.O.L.), Baylor College of Medicine, San Antonio, Texas
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R.O. Littlejohn
qDepartment of Pediatrics and Molecular and Human Genetics (E.R.R., R.O.L.), Baylor College of Medicine, San Antonio, Texas
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D. Lessel
rInstitute of Human Genetics (D.L., S.L.), University Medical Center Hamburg-Eppendorf, Hamburg, Germany
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S. Lüttgen
rInstitute of Human Genetics (D.L., S.L.), University Medical Center Hamburg-Eppendorf, Hamburg, Germany
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C. Kentros
sDivision of Clinical Genetics (C.K., K.A.-Y.), Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian, New York, New York
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K. Anyane-Yeboa
sDivision of Clinical Genetics (C.K., K.A.-Y.), Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian, New York, New York
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C.B. Catarino
tFriedrich-Baur-Institute (C.B.C., T.K.), Department of Neurology, University Hospital, Ludwig-Maximilian University Munich, Munich, Germany
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S. Mercimek-Andrews
wDepartment of Medical Genetics (S.M.-A.), Faculty of Medicine & Dentistry, University of Alberta, Edmonton, Alberta, Canada
xDepartment of Medical Genetics (S.M.-A.), The Hospital for Sick Children, Toronto, Ontario, Canada
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J. Denecke
yDepartment of Pediatrics (J.D.), University Medical Center Eppendorf, Hamburg, Germany
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M.J. Lyons
zGreenwood Genetic Center (M.J.L.), Greenwood, South Carolina
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T. Klopstock
tFriedrich-Baur-Institute (C.B.C., T.K.), Department of Neurology, University Hospital, Ludwig-Maximilian University Munich, Munich, Germany
uGerman Center for Neurodegenerative Diseases (T.K.), Munich, Germany
vMunich Cluster for Systems Neurology (T.K.), Munich, Germany
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E.J. Bhoj
bDepartment of Radiology, Division of Human Genetics (E.J.B., L.B.)
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L. Bryant
bDepartment of Radiology, Division of Human Genetics (E.J.B., L.B.)
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A. Vanderver
cDepartment of Pediatrics, and Division of Neurology (A.V.), Department of Pediatrics, Childrenșs Hospital of Philadelphia, Philadelphia, Pennsylvania
aaDepartment of Neurology (O.S., A.V.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania
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Article Information

vol. 43 no. 7 1048-1053
DOI 
https://doi.org/10.3174/ajnr.A7555
PubMed 
35772801

Published By 
American Journal of Neuroradiology
Print ISSN 
0195-6108
Online ISSN 
1936-959X
History 
  • Received February 23, 2022
  • Accepted after revision April 18, 2022
  • Published online July 7, 2022.

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  • Latest version (June 30, 2022 - 06:10).
  • You are viewing the most recent version of this article.
Copyright & Usage 
© 2022 by American Journal of Neuroradiology

Author Information

  1. C.A.P.F. Alvesa,
  2. O. Sherbiniaa,
  3. F. D’Arcod,
  4. D. Steele,f,
  5. M.A. Kuriane,f,
  6. F.C. Radiog,
  7. G.B. Ferreroh,
  8. D. Carlih,
  9. M. Tartagliag,
  10. T.B. Balcii,j,
  11. N.N. Powell-Hamiltonk,
  12. S.A. Schrier Verganol,m,
  13. H. Reuttern,
  14. J. Hoefeleo,
  15. R. Günthnero,p,
  16. E.R. Roederq,
  17. R.O. Littlejohnq,
  18. D. Lesselr,
  19. S. Lüttgenr,
  20. C. Kentross,
  21. K. Anyane-Yeboas,
  22. C.B. Catarinot,
  23. S. Mercimek-Andrewsw,x,
  24. J. Deneckey,
  25. M.J. Lyonsz,
  26. T. Klopstockt,u,v,
  27. E.J. Bhojb,
  28. L. Bryantb and
  29. A. Vanderverc,aa
  1. aFrom the Division of Neuroradiology (C.A.P.F.A.)
  2. bDepartment of Radiology, Division of Human Genetics (E.J.B., L.B.)
  3. cDepartment of Pediatrics, and Division of Neurology (A.V.), Department of Pediatrics, Childrenșs Hospital of Philadelphia, Philadelphia, Pennsylvania
  4. dDepartments of Radiology (F.D.)
  5. eNeurology (D.S., M.A.K.), Great Ormond Street Hospital for Children, London, UK
  6. fMolecular Neurosciences (D.S., M.A.K.), Zayed Centre for Research into Rare Diseases in Children, UCL GOS-Institute of Child Health, London, UK
  7. gGenetics and Rare Diseases Research Division (F.C.R., M.T.), Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
  8. hDepartment of Public Health and Pediatrics (G.B.F., D.C.),University of Torino, Turin, Italy
  9. iMedicalGenetics Programof Southwestern Ontario (T.B.B.), London Health Sciences Centre, London, Ontario, Canada
  10. jDepartment of Paediatrics (T.B.B.),Western University, London, Ontario, Canada
  11. kDivision of Medical Genetics (N.N.P.-H.), Nemours Childrenșs Hospital, Wilmington, Delaware
  12. lDivision of Medical Genetics and Metabolism (S.A.S.V.), Childrenșs Hospital of The Kingșs Daughters, Norfolk, Virginia
  13. mDepartment of Pediatrics (S.A.S.V.), Eastern Virginia Medical School, Norfolk, Virginia
  14. nDivision of Neonatology and Pediatric Intensive Care (H.R.), Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander University Nürnberg-Erlangen, Erlangen, Germany
  15. oInstitute of Human Genetics (J.H., R.G.)
  16. pDepartment of Nephrology (R.G.), Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, Germany
  17. qDepartment of Pediatrics and Molecular and Human Genetics (E.R.R., R.O.L.), Baylor College of Medicine, San Antonio, Texas
  18. rInstitute of Human Genetics (D.L., S.L.), University Medical Center Hamburg-Eppendorf, Hamburg, Germany
  19. sDivision of Clinical Genetics (C.K., K.A.-Y.), Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian, New York, New York
  20. tFriedrich-Baur-Institute (C.B.C., T.K.), Department of Neurology, University Hospital, Ludwig-Maximilian University Munich, Munich, Germany
  21. uGerman Center for Neurodegenerative Diseases (T.K.), Munich, Germany
  22. vMunich Cluster for Systems Neurology (T.K.), Munich, Germany
  23. wDepartment of Medical Genetics (S.M.-A.), Faculty of Medicine & Dentistry, University of Alberta, Edmonton, Alberta, Canada
  24. xDepartment of Medical Genetics (S.M.-A.), The Hospital for Sick Children, Toronto, Ontario, Canada
  25. yDepartment of Pediatrics (J.D.), University Medical Center Eppendorf, Hamburg, Germany
  26. zGreenwood Genetic Center (M.J.L.), Greenwood, South Carolina
  27. aaDepartment of Neurology (O.S., A.V.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania
  1. Please address correspondence to C.A. Alves, MD, PhD, Division of Neuroradiology, Department of Radiology, Children’s Hospital of Philadelphia, 111 N 49th St, Philadelphia, PA 19139; e-mail: alvesc{at}chop.edu
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C.A.P.F. Alves, O. Sherbini, F. D’Arco, D. Steel, M.A. Kurian, F.C. Radio, G.B. Ferrero, D. Carli, M. Tartaglia, T.B. Balci, N.N. Powell-Hamilton, S.A. Schrier Vergano, H. Reutter, J. Hoefele, R. Günthner, E.R. Roeder, R.O. Littlejohn, D. Lessel, S. Lüttgen, C. Kentros, K. Anyane-Yeboa, C.B. Catarino, S. Mercimek-Andrews, J. Denecke, M.J. Lyons, T. Klopstock, E.J. Bhoj, L. Bryant, A. Vanderver
Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors
American Journal of Neuroradiology Jul 2022, 43 (7) 1048-1053; DOI: 10.3174/ajnr.A7555

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Brain Abnormalities in H3F3 Variants
C.A.P.F. Alves, O. Sherbini, F. D’Arco, D. Steel, M.A. Kurian, F.C. Radio, G.B. Ferrero, D. Carli, M. Tartaglia, T.B. Balci, N.N. Powell-Hamilton, S.A. Schrier Vergano, H. Reutter, J. Hoefele, R. Günthner, E.R. Roeder, R.O. Littlejohn, D. Lessel, S. Lüttgen, C. Kentros, K. Anyane-Yeboa, C.B. Catarino, S. Mercimek-Andrews, J. Denecke, M.J. Lyons, T. Klopstock, E.J. Bhoj, L. Bryant, A. Vanderver
American Journal of Neuroradiology Jul 2022, 43 (7) 1048-1053; DOI: 10.3174/ajnr.A7555
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  • Histones: coming of age in Mendelian genetic disorders
  • Histones: coming of age in Mendelian genetic disorders
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This article has been cited by the following articles in journals that are participating in Crossref Cited-by Linking.

  • Histones: coming of age in Mendelian genetic disorders
    Karen Knapp, Nihar Naik, Sankalita Ray, Gijs van Haaften, Louise S Bicknell
    Journal of Medical Genetics 2023 60 3
  • Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
    Dana E. Layo-Carris, Emily E. Lubin, Annabel K. Sangree, Kelly J. Clark, Emily L. Durham, Elizabeth M. Gonzalez, Sarina Smith, Rajesh Angireddy, Xiao Min Wang, Erin Weiss, Annick Toutain, Roberto Mendoza-Londono, Lucie Dupuis, Nadirah Damseh, Danita Velasco, Irene Valenzuela, Marta Codina-Solà, Catherine Ziats, Jaclyn Have, Katie Clarkson, Dora Steel, Manju Kurian, Katy Barwick, Diana Carrasco, Aditi I. Dagli, M. J. M. Nowaczyk, Miroslava Hančárová, Šárka Bendová, Darina Prchalova, Zdeněk Sedláček, Alica Baxová, Catherine Bearce Nowak, Jessica Douglas, Wendy K. Chung, Nicola Longo, Konrad Platzer, Chiara Klöckner, Luisa Averdunk, Dagmar Wieczorek, Ilona Krey, Christiane Zweier, Andre Reis, Tugce Balci, Marleen Simon, Hester Y. Kroes, Antje Wiesener, Georgia Vasileiou, Nikolaos M. Marinakis, Danai Veltra, Christalena Sofocleous, Konstantina Kosma, Joanne Traeger Synodinos, Konstantinos A. Voudris, Marie-Laure Vuillaume, Paul Gueguen, Nicolas Derive, Estelle Colin, Clarisse Battault, Billie Au, Martin Delatycki, Mathew Wallis, Lyndon Gallacher, Fatma Majdoub, Noor Smal, Sarah Weckhuysen, An-Sofie Schoonjans, R. Frank Kooy, Marije Meuwissen, Benjamin T. Cocanougher, Kathryn Taylor, Carolyn E. Pizoli, Marie T. McDonald, Philip James, Elizabeth R. Roeder, Rebecca Littlejohn, Nicholas A. Borja, Willa Thorson, Kristine King, Radka Stoeva, Manon Suerink, Esther Nibbeling, Stephanie Baskin, Gwenaël L. E. Guyader, Julie Kaplan, Candace Muss, Deanna Alexis Carere, Elizabeth J. K. Bhoj, Laura M. Bryant
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  • Variations in chromatin architectural proteins in human diseases
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