Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/20454
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, Heidelberg, Victoria, Australia
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
metadata.dc.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: http://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
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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