Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/30525
Title: Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
Austin Authors: Shimada, Shino;Ng, Bobby G;White, Amy L;Nickander, Kim K;Turgeon, Coleman;Liedtke, Kristen L;Lam, Christina T;Font-Montgomery, Esperanza;Lourenco, Charles M;He, Miao;Peck, Dawn S;Umana, Luis A;Uhles, Crescenda L;Haynes, Devon;Wheeler, Patricia G;Bamshad, Michael J;Nickerson, Deborah A;Cushing, Tom;Gates, Ryan;Gomez-Ospina, Natalia;Byers, Heather M;Scalco, Fernanda B;Martinez, Noelia N;Sachdev, Rani;Smith, Lacey;Poduri, Annapurna;Malone, Stephen;Harris, Rebekah V;Scheffer, Ingrid E ;Rosenzweig, Sergio D;Adams, David R;Gahl, William A;Malicdan, May Christine V;Raymond, Kimiyo M;Freeze, Hudson H;Wolfe, Lynne A
Affiliation: Medical Genetic Branch, National Human Genome Research Institute, Bethesda, Maryland, USA..
Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA..
Human Genetics Program, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, California, USA..
Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA..
Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA..
Department of Pediatrics, University of Washington, Seattle, Washington, USA..
University Hospital Medical Genetics Clinic, University of Missouri, Columbia, Missouri, USA..
Department of Medical Genetics, School of Medicine, Neurogenetics Unit, University, Sao Paulo, Sao Paulo, Brazil..
Faculdade de Medicina, Centro Universitario Estácio de Ribeirão Preto, Ribeirão Preto, Brazil..
Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA..
Division of Genetics and Metabolism, Department of Pediatrics, The University of Texas Southwestern Medical Center, Dallas, Texas, USA..
Department of Genetics, Children's Medical Center Dallas, Dallas, Texas, USA..
Division of Genetics, Arnold Palmer Hospital for Children, Orlando, Florida, USA..
Department of Genome Sciences, University of Washington, Seattle, Washington, USA..
Professor of Genome Sciences and Bioengineering, University of Washington, Seattle, Washington, USA..
Division of Pediatric Genetics, Department of Pediatrics, University of New Mexico School of Medicine, Albuquerque, New Mexico, USA..
Division of Medical Genetics, Stanford University, Stanford, California, USA..
Laboratório de Erros Inatos do Metabolismo/LABEIM, Instituto de Química, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil..
Center for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia..
School of Women's & Children's Health, University of New South Wales, Sydney, New South Wales, Australia..
Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA..
Department of Neurosciences, Queensland Children's Hospital, South Brisbane, Queensland, Australia..
Medicine (University of Melbourne)
Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia..
Department of Laboratory Medicine, Clinical Center, and Primary Immunodeficiency Clinic, National Institute of Allergy and Infectious Diseases, Bethesda, Maryland, USA..
Medical Genetic Branch, National Human Genome Research Institute, Bethesda, Maryland, USA..
Issue Date: 5-Jul-2022
Date: 2022
Publication information: Journal of medical genetics 2022; online first: 5 July
Abstract: To summarise the clinical, molecular and biochemical phenotype of mannosyl-oligosaccharide glucosidase-related congenital disorders of glycosylation (MOGS-CDG), which presents with variable clinical manifestations, and to analyse which clinical biochemical assay consistently supports diagnosis in individuals with bi-allelic variants in MOGS. Phenotypic characterisation was performed through an international and multicentre collaboration. Genetic testing was done by exome sequencing and targeted arrays. Biochemical assays on serum and urine were performed to delineate the biochemical signature of MOGS-CDG. Clinical phenotyping revealed heterogeneity in MOGS-CDG, including neurological, immunological and skeletal phenotypes. Bi-allelic variants in MOGS were identified in 12 individuals from 11 families. The severity in each organ system was variable, without definite genotype correlation. Urine oligosaccharide analysis was consistently abnormal for all affected probands, whereas other biochemical analyses such as serum transferrin analysis was not consistently abnormal. The clinical phenotype of MOGS-CDG includes multisystemic involvement with variable severity. Molecular analysis, combined with biochemical testing, is important for diagnosis. In MOGS-CDG, urine oligosaccharide analysis via matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry can be used as a reliable biochemical test for screening and confirmation of disease.
URI: https://ahro.austin.org.au/austinjspui/handle/1/30525
DOI: 10.1136/jmedgenet-2021-108177
ORCID: http://orcid.org/0000-0001-5525-7362
http://orcid.org/0000-0003-0649-848X
http://orcid.org/0000-0001-8226-615X
http://orcid.org/0000-0002-2648-7828
http://orcid.org/0000-0002-2311-2174
http://orcid.org/0000-0003-1697-6959
Journal: Journal of medical genetics
PubMed URL: 35790351
PubMed URL: https://pubmed.ncbi.nlm.nih.gov/35790351/
Type: Journal Article
Subjects: central nervous system diseases
diagnosis
glycomics
human genetics
sequence analysis, DNA
Appears in Collections:Journal articles

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