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Tytuł:
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Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.
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Autorzy:
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Tripathy R; Research Institute of Molecular Pathology, Campus Vienna Biocenter 1, Vienna Biocenter (VBC), Vienna 1030, Austria.
Leca I; Research Institute of Molecular Pathology, Campus Vienna Biocenter 1, Vienna Biocenter (VBC), Vienna 1030, Austria.
van Dijk T; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.
Weiss J; Amsterdam UMC, Vrije Universiteit Amsterdam, Clinical Genetics, De Boelelaan 1117, Amsterdam, the Netherlands.
van Bon BW; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
Sergaki MC; Research Institute of Molecular Pathology, Campus Vienna Biocenter 1, Vienna Biocenter (VBC), Vienna 1030, Austria.
Gstrein T; Research Institute of Molecular Pathology, Campus Vienna Biocenter 1, Vienna Biocenter (VBC), Vienna 1030, Austria.
Breuss M; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
Tian G; Department of Biochemistry & Molecular Pharmacology, NYU Langone Medical Center, New York, NY 10016, USA.
Bahi-Buisson N; Université Paris Descartes, Institut Cochin Hôpital Cochin, 75014 Paris, France.
Paciorkowski AR; Department of Neurology, University of Rochester Medical Center, Rochester, NY 14642, USA.
Pagnamenta AT; NIHR Oxford Biomedical Research Centre, Oxford, UK, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Wenninger-Weinzierl A; Research Institute of Molecular Pathology, Campus Vienna Biocenter 1, Vienna Biocenter (VBC), Vienna 1030, Austria.
Martinez-Reza MF; Research Institute of Molecular Pathology, Campus Vienna Biocenter 1, Vienna Biocenter (VBC), Vienna 1030, Austria.
Landler L; Research Institute of Molecular Pathology, Campus Vienna Biocenter 1, Vienna Biocenter (VBC), Vienna 1030, Austria.
Lise S; NIHR Oxford Biomedical Research Centre, Oxford, UK, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Taylor JC; NIHR Oxford Biomedical Research Centre, Oxford, UK, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Terrone G; Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, 80131 Naples, Italy.
Vitiello G; Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, 80131 Naples, Italy.
Del Giudice E; Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, 80131 Naples, Italy.
Brunetti-Pierri N; Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, 80131 Naples, Italy; Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Naples, Italy.
D'Amico A; Department of Advanced Medical Sciences, University of Naples Federico II, 80131 Naples, Italy.
Reymond A; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland.
Voisin N; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland.
Bernstein JA; Stanford School of Medicine, Stanford, CA 94305, USA.
Farrelly E; Stanford Children's Health, Palo Alto, CA 94304, USA.
Kini U; Department of Clinical Genetics, Oxford Regional Genetics Service, Churchill Hospital, Oxford OX3 7LJ, UK.
Leonard TA; Center for Medical Biochemistry, Medical University of Vienna, Max F. Perutz Laboratories, Vienna Biocenter (VBC), Campus Vienna Biocenter 5, 1030 Vienna, Austria.
Valence S; Centre de référence des Malformations et Maladies Congénitales du Cervelet et Département de Génétique et Embryologie Médicale, APHP, Hôpital Trousseau, 75012 Paris, France.
Burglen L; Centre de référence des Malformations et Maladies Congénitales du Cervelet et Département de Génétique et Embryologie Médicale, APHP, Hôpital Trousseau, 75012 Paris, France.
Armstrong L; Provincial Medical Genetics Programme, BCWH and Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.
Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Aldinger KA; Seattle Children's Research Institute, Center for Integrative Brain Research, Seattle, WA 98101, USA.
Dobyns WB; Seattle Children's Research Institute, Center for Integrative Brain Research, Seattle, WA 98101, USA.
Mirzaa G; Seattle Children's Research Institute, Center for Integrative Brain Research, Seattle, WA 98101, USA.
Pierson TM; Departments of Pediatrics and Neurology & the Board of Governors Regenerative Medicine, Institute Cedars Sinai Medical Center, Los Angeles, CA 90048, USA.
Baas F; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.
Chelly J; Service de Diagnostic Génétique, Hôpital Civil de Strasbourg, Hôpitaux Universitaires de Strasbourg, 67091 Strasbourg, France.
Cowan NJ; Department of Biochemistry & Molecular Pharmacology, NYU Langone Medical Center, New York, NY 10016, USA.
Keays DA; Research Institute of Molecular Pathology, Campus Vienna Biocenter 1, Vienna Biocenter (VBC), Vienna 1030, Austria. Electronic address: .
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Źródło:
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Neuron [Neuron] 2018 Dec 19; Vol. 100 (6), pp. 1354-1368.e5. Date of Electronic Publication: 2018 Nov 15.
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Typ publikacji:
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Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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Język:
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English
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Imprint Name(s):
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Original Publication: [Cambridge, Mass. : Cell Press, c1988-
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MeSH Terms:
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Agenesis of Corpus Callosum/*genetics
Cerebellum/*abnormalities
Gene Expression Regulation, Developmental/*genetics
Malformations of Cortical Development/*genetics
Microtubule-Associated Proteins/*genetics
Mutation/*genetics
Nervous System Malformations/*genetics
Agenesis of Corpus Callosum/complications ; Agenesis of Corpus Callosum/diagnostic imaging ; Agenesis of Corpus Callosum/pathology ; Animals ; Animals, Newborn ; Apoptosis/genetics ; Brain/metabolism ; Brain/pathology ; Cells, Cultured ; Cerebellum/diagnostic imaging ; Child ; Developmental Disabilities/complications ; Developmental Disabilities/diagnostic imaging ; Developmental Disabilities/genetics ; Disease Models, Animal ; Embryo, Mammalian ; Female ; Humans ; Male ; Malformations of Cortical Development/complications ; Malformations of Cortical Development/diagnostic imaging ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Microtubule-Associated Proteins/deficiency ; Nerve Tissue Proteins/metabolism ; Nervous System Malformations/complications ; Nervous System Malformations/diagnostic imaging ; PAX6 Transcription Factor/metabolism
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Grant Information:
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R01 NS092772 United States NS NINDS NIH HHS; I 2681 Austria FWF_ Austrian Science Fund FWF; U01 HG007301 United States HG NHGRI NIH HHS; R01 GM097376 United States GM NIGMS NIH HHS; K08 NS092898 United States NS NINDS NIH HHS; P 28135 Austria FWF_ Austrian Science Fund FWF; R01 NS058721 United States NS NINDS NIH HHS
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Contributed Indexing:
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Keywords: MAST1; cerebellar hypoplasia; corpus callosum; microdeletion; microtubules
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Substance Nomenclature:
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0 (Microtubule-Associated Proteins)
0 (Nerve Tissue Proteins)
0 (PAX6 Transcription Factor)
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SCR Disease Name:
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Cerebellar Hypoplasia
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Entry Date(s):
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Date Created: 20181120 Date Completed: 20190808 Latest Revision: 20231115
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Update Code:
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20240105
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PubMed Central ID:
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PMC6436622
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DOI:
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10.1016/j.neuron.2018.10.044
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PMID:
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30449657
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Corpus callosum malformations are associated with a broad range of neurodevelopmental diseases. We report that de novo mutations in MAST1 cause mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCC-CH-CM) in the absence of megalencephaly. We show that MAST1 is a microtubule-associated protein that is predominantly expressed in post-mitotic neurons and is present in both dendritic and axonal compartments. We further show that Mast1 null animals are phenotypically normal, whereas the deletion of a single amino acid (L278del) recapitulates the distinct neurological phenotype observed in patients. In animals harboring Mast1 microdeletions, we find that the PI3K/AKT3/mTOR pathway is unperturbed, whereas Mast2 and Mast3 levels are diminished, indicative of a dominant-negative mode of action. Finally, we report that de novo MAST1 substitutions are present in patients with autism and microcephaly, raising the prospect that mutations in this gene give rise to a spectrum of neurodevelopmental diseases.
(Copyright © 2018 Elsevier Inc. All rights reserved.)
