Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation

Shino Shimada; Bobby G Ng; Amy L White; Kim K Nickander; Coleman Turgeon; Kristen L Liedtke; Christina T Lam; Esperanza Font-Montgomery; Charles M Lourenco; Miao He; Dawn S Peck; Luis A Umana; Crescenda L Uhles; Devon Haynes; Patricia G Wheeler; Michael J Bamshad; Deborah A Nickerson; Tom Cushing; Ryan Gates; Natalia Gomez-Ospina; Heather M Byers; UW Center for Mendelian Genomics; Fernanda B Scalco; Noelia N Martinez; Rani Sachdev; Lacey Smith; Annapurna Poduri; Stephen Malone; Rebekah V Harris; Ingrid E Scheffer; Sergio D Rosenzweig; David R Adams; William A Gahl; May Christine V Malicdan; Kimiyo M Raymond; Hudson H Freeze; Lynne A Wolfe

doi:10.1136/jmedgenet-2021-108177

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Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation

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Shino Shimada 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 PubMed articles Google scholar articles
Bobby G Ng Human Genetics Program, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, California, USA PubMed articles Google scholar articles
Amy L White Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA PubMed articles Google scholar articles
Kim K Nickander Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA PubMed articles Google scholar articles
Coleman Turgeon Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA PubMed articles Google scholar articles
Kristen L Liedtke Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA PubMed articles Google scholar articles
Christina T Lam Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, Washington, USA Department of Pediatrics, University of Washington, Seattle, Washington, USA PubMed articles Google scholar articles
Esperanza Font-Montgomery University Hospital Medical Genetics Clinic, University of Missouri, Columbia, Missouri, USA PubMed articles Google scholar articles
Charles M Lourenco 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 PubMed articles Google scholar articles
Miao He Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA PubMed articles Google scholar articles
Dawn S Peck Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA PubMed articles Google scholar articles
Luis A Umana Division of Genetics and Metabolism, Department of Pediatrics, The University of Texas Southwestern Medical Center, Dallas, Texas, USA PubMed articles Google scholar articles
Crescenda L Uhles Department of Genetics, Children’s Medical Center Dallas, Dallas, Texas, USA PubMed articles Google scholar articles
Devon Haynes Division of Genetics, Arnold Palmer Hospital for Children, Orlando, Florida, USA PubMed articles Google scholar articles
Patricia G Wheeler Division of Genetics, Arnold Palmer Hospital for Children, Orlando, Florida, USA PubMed articles Google scholar articles
Michael J Bamshad Department of Pediatrics, University of Washington, Seattle, Washington, USA Department of Genome Sciences, University of Washington, Seattle, Washington, USA PubMed articles Google scholar articles
Deborah A Nickerson Professor of Genome Sciences and Bioengineering, University of Washington, Seattle, Washington, USA PubMed articles Google scholar articles
Tom Cushing Division of Pediatric Genetics, Department of Pediatrics, University of New Mexico School of Medicine, Albuquerque, New Mexico, USA PubMed articles Google scholar articles
Ryan Gates Division of Medical Genetics, Stanford University, Stanford, California, USA PubMed articles Google scholar articles
Natalia Gomez-Ospina Division of Medical Genetics, Stanford University, Stanford, California, USA PubMed articles Google scholar articles
Heather M Byers Division of Medical Genetics, Stanford University, Stanford, California, USA PubMed articles Google scholar articles
UW Center for Mendelian Genomics
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Fernanda B Scalco Laboratório de Erros Inatos do Metabolismo/LABEIM, Instituto de Química, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil PubMed articles Google scholar articles
Noelia N Martinez Center for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia PubMed articles Google scholar articles
Rani Sachdev 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 PubMed articles Google scholar articles
Lacey Smith Department of Neurology, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts, USA PubMed articles Google scholar articles
Annapurna Poduri Department of Neurology, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts, USA PubMed articles Google scholar articles
Stephen Malone Department of Neurosciences, Queensland Children's Hospital, South Brisbane, Queensland, Australia PubMed articles Google scholar articles
Rebekah V Harris Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia PubMed articles Google scholar articles
Ingrid E Scheffer Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia Department of Paediatrics, The University of Melbourne, Royal Children’s Hospital, Parkville, Victoria, Australia PubMed articles Google scholar articles
Sergio D Rosenzweig Department of Laboratory Medicine, Clinical Center, and Primary Immunodeficiency Clinic, National Institute of Allergy and Infectious Diseases, Bethesda, Maryland, USA PubMed articles Google scholar articles
David R Adams 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 PubMed articles Google scholar articles
William A Gahl 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 PubMed articles Google scholar articles
May Christine V Malicdan 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 PubMed articles Google scholar articles
Kimiyo M Raymond Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA PubMed articles Google scholar articles
Hudson H Freeze Human Genetics Program, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, California, USA PubMed articles Google scholar articles
Lynne A Wolfe 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 PubMed articles Google scholar articles

Correspondence to Dr Shino Shimada, Medical Genetic Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA; s-shimada{at}juntendo.ac.jp

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Citation

Shimada S, Ng BG, White AL, et al

Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation

Journal of Medical Genetics 2022;59:1104-1115.

Publication history

Received October 21, 2021
Accepted April 18, 2022
First published July 5, 2022.

Online issue publication

October 21, 2022

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