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Title: | SLC35A2-CDG: Functional Characterization, Expanded Molecular, Clinical, and Biochemical Phenotypes of 30 Unreported Individuals. | Austin Authors: | Ng, Bobby G;Sosicka, Paulina;Agadi, Satish;Almannai, Mohammed;Bacino, Carlos A;Barone, Rita;Botto, Lorenzo D;Burton, Jennifer E;Carlston, Colleen;Chung, Brian Hon-Yin;Cohen, Julie S;Coman, David;Dipple, Katrina M;Dorrani, Naghmeh;Dobyns, William B;Elias, Abdallah F;Epstein, Leon;Gahl, William A;Garozzo, Domenico;Hammer, Trine Bjørg;Haven, Jaclyn;Héron, Delphine;Herzog, Matthew;Hoganson, George E;Hunter, Jesse M;Jain, Mahim;Juusola, Jane;Lakhani, Shenela;Lee, Hane;Lee, Joy ;Lewis, Katherine;Longo, Nicola;Lourenço, Charles Marques;Mak, Christopher C Y;McKnight, Dianalee;Mendelsohn, Bryce A;Mignot, Cyril;Mirzaa, Ghayda;Mitchell, Wendy;Muhle, Hiltrud;Nelson, Stanley F;Olczak, Mariusz;Palmer, Christina G S;Partikian, Arthur;Patterson, Marc C;Pierson, Tyler M;Quinonez, Shane C;Regan, Brigid M;Ross, M Elizabeth;Guillen Sacoto, Maria J;Scaglia, Fernando;Scheffer, Ingrid E ;Segal, Devorah;Singhal, Nilika Shah;Striano, Pasquale;Sturiale, Luisa;Symonds, Joseph D;Tang, Sha;Vilain, Eric;Willis, Mary;Wolfe, Lynne A;Yang, Hui;Yano, Shoji;Undiagnosed Disease Network, null;Powis, Zöe;Suchy, Sharon F;Rosenfeld, Jill A;Edmondson, Andrew C;Grunewald, Stephanie;Freeze, Hudson H | Affiliation: | Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas Division of Medical Genetics, Departments of Pediatrics, University of Utah, Salt Lake City, Utah Department of Pediatrics, University of Illinois College of Medicine, Peoria, Illinois Department of Pathology, University of Utah, Salt Lake City, Utah Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland Department of Pediatrics, UCLA, Los Angeles, CA Department of Medical Genetics, Shodair Children's Hospital, PO Box, Helena, Montana Northwestern University Feinberg School of Medicine, Chicago, Illinois CNR, Institute for Polymers, Composites and Biomaterials, Catania, Italy Danish Epilepsy Center-Filadelfia, Dianalund, Denmark Department of Medical Genetics, Shodair Children's Hospital, PO Box, Helena, Montana APHP, Département de Génétique, GH Pitié Salpêtrière, CRMR Déficiences Intellectuelles de Causes Rares, Sorbonne Université GRC 9, Paris, France Department of Human Genetics, UCLA, Los Angeles, CA Department of Pediatrics, University of Illinois College of Medicine, Peoria, Illinois Ambry Genetics, Aliso Viejo, California Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland GeneDx, Gaithersburg, Maryland Center for Neurogenetics Brain and Mind Research Institute Weill Cornell Medicine New York, NY Division of Medical Genetics, Departments of Pediatrics, University of Utah, Salt Lake City, Utah Clinical Genetics and Neurogenetics, Centro Universitario Estacio de Ribeirao Preto, Ribeirao Preto, Brazil Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong GeneDx, Gaithersburg, Maryland Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, San Francisco, California APHP, Département de Génétique, GH Pitié Salpêtrière, CRMR Déficiences Intellectuelles de Causes Rares, Sorbonne Université GRC 9, Paris, France Laboratory of Biochemistry, Faculty of Biotechnology, University of Wroclaw, 14A F. Joliot-Curie St., 50-383, Wroclaw, Poland Departments of Pediatrics & Neurology, Keck School of Medicine of University of Southern California, Los Angeles, California Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, Minnesota Department of Pediatrics, Division of Genetics, Metabolism and Genomic Medicine, University of Michigan, Ann Arbor, Michigan Center for Neurogenetics Brain and Mind Research Institute Weill Cornell Medicine New York, NY GeneDx, Gaithersburg, Maryland Neurology & Pediatrics, University of California, San Francisco, San Francisco, California Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, "G. Gaslini" Institute, Genova, Italy CNR, Institute for Polymers, Composites and Biomaterials, Catania, Italy Ambry Genetics, Aliso Viejo, California Center for Genetic Medicine Research, Children's National Medical Center, Washington, District of Columbia Department of Pediatrics, Naval Medical Center, San Diego, California GeneDx, Gaithersburg, Maryland Genetics Division, Department of Pediatrics, LAC+USC Medical Center, University of Southern California, Los Angeles, California Ambry Genetics, Aliso Viejo, California GeneDx, Gaithersburg, Maryland Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas Schools of Medicine, University of Queensland Brisbane, Griffith University Gold Coast, Brisbane, Australia Department of Metabolic Medicine, The Royal Children's Hospital, Melbourne, Parkville, Victoria, Australia Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia Austin Health The University of Melbourne, Royal Children's Hospital, Florey Institute and Murdoch Children's Research Institute, Melbourne, Australia Child Neurology and Psychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy CNR, Institute for Polymers, Composites and Biomaterials, Catania, Italy Department of Pediatrics, University of Washington, Seattle, WA Seattle Children's Hospital, Seattle, WA Department of Human Genetics, UCLA, Los Angeles, CA Departments of Pediatrics, University of Washington, Seattle, Washington Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington Department of Human Genetics, UCLA, Los Angeles, CA Department of Pathology and Laboratory Medicine, UCLA, Los Angeles, CA Department of Psychiatry & Biobehavioral Sciences, UCLA, Los Angeles, CA Institute for Society and Genetics, UCLA, Los Angeles, CA Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, California Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, California Department of Metabolic Medicine, Queensland Children's Hospital, Brisbane, Australia Texas Children's Hospital, Houston, Texas Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland Undiagnosed Diseases program, Common Fund, National Institutes of Health, Bethesda, Maryland Department of Pathology and Laboratory Medicine, UCLA, Los Angeles, CA Neurology Division Children's Hospital Los Angeles, Los Angeles, California Department of Neurology, Keck School of Medicine, University of Southern California, Los Angeles, California Texas Children's Hospital, Houston, Texas Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, ShaTin, Hong Kong SAR Center for Neurogenetics Brain and Mind Research Institute Weill Cornell Medicine New York, NY Department of Pediatrics Division of Child Neurology Weill Cornell Medicine New York, New York Paediatric Neurosciences Research Group, Royal Hospital for Children, Queen Elizabeth University Hospitals, 1345 Govan Road, Glasgow, G51 4TF, UK Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London/UK Department of Neuropediatrics, Christian-Albrechts-University of Kiel, Kiel, Germany |
Issue Date: | 2019 | Date: | 2019-02-28 | Publication information: | Human Mutation 2019; 40(7): 908-925 | Abstract: | Pathogenic de novo variants in the X-linked gene SLC35A2 encoding the major Golgi-localized UDP-galactose transporter required for proper protein and lipid glycosylation cause a rare type of congenital disorder of glycosylation known as SLC35A2-CDG (formerly CDG-IIm). To date, twenty-nine unique de novo variants from thirty-two unrelated individuals have been described in the literature. The majority of affected individuals are primarily characterized by varying degrees of neurological impairments with or without skeletal abnormalities. Surprisingly, most affected individuals do not show abnormalities in serum transferrin N-glycosylation, a common biomarker for most types of CDG. Here we present data characterizing 30 individuals and add 26 new variants, the single largest study involving SLC35A2-CDG. The great majority of these individuals had normal transferrin glycosylation. In addition, expanding the molecular and clinical spectrum of this rare disorder, we developed a robust and reliable biochemical assay to assess SLC35A2-dependent UDP-galactose transport activity in primary fibroblasts. Finally, we show that transport activity is directly correlated to the ratio of wild-type to mutant alleles in fibroblasts from affected individuals. This article is protected by copyright. All rights reserved. | URI: | https://ahro.austin.org.au/austinjspui/handle/1/20454 | DOI: | 10.1002/humu.23731 | ORCID: | 0000-0002-3677-1216 0000-0002-2311-2174 0000-0001-6934-6518 0000-0001-6440-8089 |
Journal: | Human Mutation | PubMed URL: | 30817854 | Type: | Journal Article | Subjects: | Congenital Disorders of Glycosylation (CDG) UDP-galactose glycoside nucleotide sugar transporter |
Appears in Collections: | Journal articles |
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