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      Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.

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          Abstract

          Collagens are one of the major constituents of the pial membrane, which plays a crucial role in neuronal migration and cortical lamination during brain development. Type III procollagen, the chains of which are encoded by COL3A1, is the ligand of the G protein-coupled receptor 56 (GPR56), also known as adhesion G protein-coupled receptor G1. Bi-allelic mutations in GPR56 give rise to cobblestone-like malformation, white matter changes and cerebellar dysplasia. This report shows that bi-allelic mutations in COL3A1 are associated with a similar phenotype.

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          Author and article information

          Journal
          J. Med. Genet.
          Journal of medical genetics
          BMJ
          1468-6244
          0022-2593
          Jun 2017
          : 54
          : 6
          Affiliations
          [1 ] Neurogenetics Research Group, Research Cluster Reproduction, Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels, Belgium.
          [2 ] Center for Medical Genetics, UZ Brussel, Brussels, Belgium.
          [3 ] Department of Radiology, UZ Brussel, Brussels, Belgium.
          [4 ] Department of Pediatric Neurology, AZ Delta, Roeselare, Belgium.
          [5 ] Department of Clinical Genetics, Guy's Hospital, London, UK.
          [6 ] Division of Child and Adolescent Health, Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway.
          [7 ] Department of Pathology, University of Washington, Seattle, Washington, USA.
          [8 ] Service de Génétique Clinique, Hôpital J. de Flandre, Lille, France.
          [9 ] Unité de Génétique Médicale, Nîmes University Hospital,CHU Carémeau, Nîmes, France.
          [10 ] Institut Imagine, Université Paris Descartes - Sorbonne Paris Cités, Paris, France.
          [11 ] Department of Medicine (Medical Genetics), University of Washington, Seattle, USA.
          [12 ] Department of Pediatrics, Pediatric Neurology Unit, UZ Brussel, Brussels, Belgium.
          Article
          jmedgenet-2016-104421
          10.1136/jmedgenet-2016-104421
          28258187

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