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February 2018; 4 (1) ArticleOpen Access

Duplications at 19q13.33 in patients with neurodevelopmental disorders

Eduardo Pérez-Palma, Elmo Saarentaus, Marie Ravoet, Giancarlo V. De Ferrari, Peter Nürnberg, Bertrand Isidor, Bernd A. Neubauer, Dennis Lal
First published January 29, 2018, DOI: https://doi.org/10.1212/NXG.0000000000000210
Eduardo Pérez-Palma
From Center for Biomedical Research (E.P.P., G.V.D.F.), Faculty of Biological Sciences and Faculty of Medicine, Universidad Andres Bello, Santiago, Chile; Stanley Center for Psychiatric Genetics (E.S., D.L.), Broad Institute of MIT and Harvard, Cambridge, MA; the Analytic and Translational Genetics Unit (E.S., D.L.), Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA; Molecular Immunology Unit (M.R.), Institut Jules Bordet, Université Libre de Bruxelles, Brussels, Belgium; Cologne Center for Genomics (P.N., D.L.), University of Cologne, Germany; Service de Génétique Médicale (B.I.), CHU Hôtel Dieu, France; and Department of Neuropediatrics (B.A.N.), University Medical Clinic Giessen, Germany.
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Elmo Saarentaus
From Center for Biomedical Research (E.P.P., G.V.D.F.), Faculty of Biological Sciences and Faculty of Medicine, Universidad Andres Bello, Santiago, Chile; Stanley Center for Psychiatric Genetics (E.S., D.L.), Broad Institute of MIT and Harvard, Cambridge, MA; the Analytic and Translational Genetics Unit (E.S., D.L.), Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA; Molecular Immunology Unit (M.R.), Institut Jules Bordet, Université Libre de Bruxelles, Brussels, Belgium; Cologne Center for Genomics (P.N., D.L.), University of Cologne, Germany; Service de Génétique Médicale (B.I.), CHU Hôtel Dieu, France; and Department of Neuropediatrics (B.A.N.), University Medical Clinic Giessen, Germany.
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Marie Ravoet
From Center for Biomedical Research (E.P.P., G.V.D.F.), Faculty of Biological Sciences and Faculty of Medicine, Universidad Andres Bello, Santiago, Chile; Stanley Center for Psychiatric Genetics (E.S., D.L.), Broad Institute of MIT and Harvard, Cambridge, MA; the Analytic and Translational Genetics Unit (E.S., D.L.), Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA; Molecular Immunology Unit (M.R.), Institut Jules Bordet, Université Libre de Bruxelles, Brussels, Belgium; Cologne Center for Genomics (P.N., D.L.), University of Cologne, Germany; Service de Génétique Médicale (B.I.), CHU Hôtel Dieu, France; and Department of Neuropediatrics (B.A.N.), University Medical Clinic Giessen, Germany.
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Giancarlo V. De Ferrari
From Center for Biomedical Research (E.P.P., G.V.D.F.), Faculty of Biological Sciences and Faculty of Medicine, Universidad Andres Bello, Santiago, Chile; Stanley Center for Psychiatric Genetics (E.S., D.L.), Broad Institute of MIT and Harvard, Cambridge, MA; the Analytic and Translational Genetics Unit (E.S., D.L.), Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA; Molecular Immunology Unit (M.R.), Institut Jules Bordet, Université Libre de Bruxelles, Brussels, Belgium; Cologne Center for Genomics (P.N., D.L.), University of Cologne, Germany; Service de Génétique Médicale (B.I.), CHU Hôtel Dieu, France; and Department of Neuropediatrics (B.A.N.), University Medical Clinic Giessen, Germany.
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Peter Nürnberg
From Center for Biomedical Research (E.P.P., G.V.D.F.), Faculty of Biological Sciences and Faculty of Medicine, Universidad Andres Bello, Santiago, Chile; Stanley Center for Psychiatric Genetics (E.S., D.L.), Broad Institute of MIT and Harvard, Cambridge, MA; the Analytic and Translational Genetics Unit (E.S., D.L.), Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA; Molecular Immunology Unit (M.R.), Institut Jules Bordet, Université Libre de Bruxelles, Brussels, Belgium; Cologne Center for Genomics (P.N., D.L.), University of Cologne, Germany; Service de Génétique Médicale (B.I.), CHU Hôtel Dieu, France; and Department of Neuropediatrics (B.A.N.), University Medical Clinic Giessen, Germany.
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Bertrand Isidor
From Center for Biomedical Research (E.P.P., G.V.D.F.), Faculty of Biological Sciences and Faculty of Medicine, Universidad Andres Bello, Santiago, Chile; Stanley Center for Psychiatric Genetics (E.S., D.L.), Broad Institute of MIT and Harvard, Cambridge, MA; the Analytic and Translational Genetics Unit (E.S., D.L.), Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA; Molecular Immunology Unit (M.R.), Institut Jules Bordet, Université Libre de Bruxelles, Brussels, Belgium; Cologne Center for Genomics (P.N., D.L.), University of Cologne, Germany; Service de Génétique Médicale (B.I.), CHU Hôtel Dieu, France; and Department of Neuropediatrics (B.A.N.), University Medical Clinic Giessen, Germany.
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Bernd A. Neubauer
From Center for Biomedical Research (E.P.P., G.V.D.F.), Faculty of Biological Sciences and Faculty of Medicine, Universidad Andres Bello, Santiago, Chile; Stanley Center for Psychiatric Genetics (E.S., D.L.), Broad Institute of MIT and Harvard, Cambridge, MA; the Analytic and Translational Genetics Unit (E.S., D.L.), Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA; Molecular Immunology Unit (M.R.), Institut Jules Bordet, Université Libre de Bruxelles, Brussels, Belgium; Cologne Center for Genomics (P.N., D.L.), University of Cologne, Germany; Service de Génétique Médicale (B.I.), CHU Hôtel Dieu, France; and Department of Neuropediatrics (B.A.N.), University Medical Clinic Giessen, Germany.
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Dennis Lal
From Center for Biomedical Research (E.P.P., G.V.D.F.), Faculty of Biological Sciences and Faculty of Medicine, Universidad Andres Bello, Santiago, Chile; Stanley Center for Psychiatric Genetics (E.S., D.L.), Broad Institute of MIT and Harvard, Cambridge, MA; the Analytic and Translational Genetics Unit (E.S., D.L.), Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA; Molecular Immunology Unit (M.R.), Institut Jules Bordet, Université Libre de Bruxelles, Brussels, Belgium; Cologne Center for Genomics (P.N., D.L.), University of Cologne, Germany; Service de Génétique Médicale (B.I.), CHU Hôtel Dieu, France; and Department of Neuropediatrics (B.A.N.), University Medical Clinic Giessen, Germany.
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Citation
Duplications at 19q13.33 in patients with neurodevelopmental disorders
Eduardo Pérez-Palma, Elmo Saarentaus, Marie Ravoet, Giancarlo V. De Ferrari, Peter Nürnberg, Bertrand Isidor, Bernd A. Neubauer, Dennis Lal
Neurol Genet Feb 2018, 4 (1) e210; DOI: 10.1212/NXG.0000000000000210

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    Figure Genomic and facial overview of the microduplications overlapping the GRIN2D gene found in the retrieved patients

    (A) Clinical anteroposterior facial photograph of patient 10 depicting characteristic facial features. (B) Thirteen patients were identified with GRIN2D duplications at the 19q13.33 locus. Blue horizontal bars represent the respective microduplication size and breakpoints according to GRCh37/hg19 human genome reference in a 12-Mb genomic window. Gray horizontal bars represent the respective microduplication reported in the study by Dorn et al.13 Carvalheira et al.11 and Wang et al.12 in which no exact copy number variant boundaries are specified (*). Microduplications larger than the depicted genomic interval are shown with arrows at boundaries (patients 1, 2, 7, and 8). Bottom panel: The consensus duplicated region of the 12 patients is depicted in the blue horizontal bar in a 405-kb window. Thirteen RefSeq genes are located in this region.

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