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A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction
Authors:Bobby G Ng  Paulina Sosicka  François Fenaille  Annie Harroche  Sandrine Vuillaumier-Barrot  Mindy Porterfield  Zhi-Jie Xia  Shannon Wagner  Michael J Bamshad  Marie-Christine Vergnes-Boiteux  Sophie Cholet  Stephen Dalton  Anne Dell  Thierry Dupré  Mathieu Fiore  Stuart M Haslam  Yohann Huguenin  Tadahiro Kumagai  Hudson H Freeze
Institution:1. Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA;2. Université Paris-Saclay, CEA, INRAE, Département Médicaments et Technologies pour la Santé, MetaboHUB, 91191 Gif sur Yvette, France;3. Hôpital Necker, Haemophilia Care Centre, 75015 Paris, France;4. AP-HP, Hôpital Bichat-Claude Bernard, Biochimie Métabolique et Cellulaire, 75018 Paris, France;5. INSERM U1149, Université de Paris, 75018 Paris, France;6. Complex Carbohydrate Research Center, Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA;7. Department of Pediatrics, University of Washington, Seattle, WA 98195, USA;8. Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA;9. Laboratoire d’Hématologie, CHU de Bordeaux, 33604 Pessac, France;10. Center for Molecular Medicine, University of Georgia, Athens, GA 30602, USA;11. Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA;12. Department of Life Sciences, Imperial College London, SW7 2AZ London, UK;13. Centre de Référence des Pathologies Plaquettaires Constitutionnelles, CHU de Bordeaux, 33604 Pessac, France;14. Centre de Ressources et de Compétence des Maladies Hémorragiques Constitutionnelles, CHU de Bordeaux, 33076 Bordeaux, France;15. Medical Director of Hepatology Nemours Children’s Specialty Care, Jacksonville, FL 32207, USA;16. Department of Clinical Genetics and Reference Centre for Constitutional Bone Diseases, INSERM U1163, Université de Paris, Imagine Institute, Necker-Enfants Malades Hospital, AP-HP, 75015, Paris, France;17. Laboratoire d’Hématologie Biologique, AP-HP, Hôpital Necker Enfants Malades, 75015 Paris, France;18. HITh, UMR_S 1176, INSERM, Université Paris-Saclay, 94270 Le Kremlin-Bicêtre, France;19. Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA;20. Division of Pediatric Hematology Oncology, Mayo Clinic, Rochester, MN 55905, USA;21. JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA;22. INSERM UMR1193, Université Paris-Saclay, 92290 Châtenay-Malabry, France
Abstract:
Keywords:glycosylation  congenital disordes of glycosylation  exome sequencing  coagulopathy  Golgi pH
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