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A post glycosylphosphatidylinositol (GPI) attachment to proteins,type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder
Affiliation:1. Department of Pediatrics, UCSD School of Medicine, United States;2. Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Germany;3. Department of Human Genetics, University Hospital Schleswig-Holstein, Campus Kiel, Christian-Albrechts-University, Kiel, Germany;4. Centre Hospitalier Universitaire Sainte Justine Research Center, University of Montreal, Canada;5. Research Institute for Microbial Diseases, Osaka University, Japan;6. Department of Physiology, University of Toronto, Canada;7. Department of Obstetrics and Gynaecology, University of Toronto, Canada;8. Laboratory Medicine and Pathobiology, University of Toronto, Canada;9. Department of Pediatrics, College of Medicine, University of Kentucky, United States;1. Department of Pathology, Wayne State University, 4160 John R Street, Detroit, MI 48201, USA;2. Department of Pathology and Laboratory Medicine, Detroit Medical Center University Laboratories, 4160 John R Street, Detroit, MI 48201, USA;3. Department of Pathology, Wayne State University, School of Medicine, 540 East Canfield Street, Detroit, MI 48201, USA;4. Pathology Laboratories, Michigan Surgical Hospital, 21230 Dequindre Road, Warren, MI 48091, USA;1. Division of Fetal and Transitional Medicine, Children''s National Health System, Washington, District of Columbia;2. Department of Pediatrics, The George Washington University School of Medicine and Health Sciences, Washington, District of Columbia;3. Department of Neurology, The George Washington University School of Medicine and Health Sciences, Washington, District of Columbia;4. Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California;5. Division of Radiology, Children''s National Health System, Washington, District of Columbia;6. National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland;1. Department of Clinical Genetics, St. Michaels Hospital, Bristol, UK;2. School of Clinical Sciences, University of Bristol, Bristol, UK;3. Department of Paediatric Neurology, Bristol Royal Hospital for Children, UK;4. Department of Paediatrics, Yeovil Hospital, Somerset, UK;5. North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK;6. Wellcome Trust Sanger Institute, Cambridge, UK
Abstract:
Keywords:Mabry syndrome  Inherited glycosylphosphatidylinositol deficiency (IGD)  Post GPI attachment to proteins  Type 2 (PGAP2)  Isoform 8  Whole exome/genome sequencing
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