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Pérez-Palma E, Saarentaus E, Ravoet M, et al. Duplications at 19q13.33 in patients with neurodevelopmental disorders. Neurol Genet. 2018;4(1):e210doi: 10.1212/NXG.0000000000000210.
Pérez-Palma, E., Saarentaus, E., Ravoet, M., De Ferrari, G. V., Nürnberg, P., Isidor, B., Neubauer, B. A., & Lal, D. (2018). Duplications at 19q13.33 in patients with neurodevelopmental disorders. Neurology. Genetics, 4(1), e210. https://doi.org/10.1212/NXG.0000000000000210
Pérez-Palma, Eduardo, et al. "Duplications at 19q13.33 in patients with neurodevelopmental disorders." Neurology. Genetics vol. 4,1 (2018): e210. doi: https://doi.org/10.1212/NXG.0000000000000210
Pérez-Palma E, Saarentaus E, Ravoet M, De Ferrari GV, Nürnberg P, Isidor B, Neubauer BA, Lal D. Duplications at 19q13.33 in patients with neurodevelopmental disorders. Neurol Genet. 2018 Jan 26;4(1):e210. doi: 10.1212/NXG.0000000000000210. eCollection 2018 Feb. PMID: 29473046; PMCID: PMC5820601.
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Neurol Genet. 2018 Jan 26;4(1):e210. doi: 10.1212/NXG.0000000000000210. eCollection 2018 Feb.

Duplications at 19q13.33 in patients with neurodevelopmental disorders.

Neurology. Genetics

Eduardo Pérez-Palma, Elmo Saarentaus, Marie Ravoet, Giancarlo V De Ferrari, Peter Nürnberg, Bertrand Isidor, Bernd A Neubauer, Dennis Lal

Affiliations

  1. 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.

PMID: 29473046 PMCID: PMC5820601 DOI: 10.1212/NXG.0000000000000210

Abstract

OBJECTIVE: After the recent publication of the first patients with disease-associated missense variants in the

METHODS: We explored ClinVar (number of CNVs = 50,794) and DECIPHER (number of CNVs = 28,085) clinical databases of genomic variations for patients with copy number changes overlapping the

RESULTS: We identified 11 patients with microduplications at the 19q13.33 locus. The majority of CNVs arose de novo, and comparable CNVs are not present in control databases. All patients were reported to have NDDs and dysmorphic features as the most common clinical phenotype (N = 8/11), followed by seizures (N = 6/11) and intellectual disability (N = 5/11). All duplications shared a consensus region of 405 kb overlapping 13 genes. After screening for duplication tolerance in control populations, positive gene brain expression, and gene dosage sensitivity analysis, we highlight 4 genes for future evaluation:

CONCLUSIONS: Our study presents dup19q13.33 as a novel duplication syndrome locus associated with NDDs.

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