Evidence map›Paper›PMID 35790351›Full record

ArticleJournal of medical genetics2022

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 and 27 more

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of medical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
1.6field-weighted citation impact, top 16% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

8 citing papers in PubMed, 20 citations in OpenAlex.

  1. Article
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  5. Review
  6. NovelFrontiers in pediatrics · 2025
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

37 authors at 20 institutions in 5 countries.

Shino Shimada *Medical Genetic Branch, National Human Genome Research Institute, Bethesda, Maryland, USA s-shimada@juntendo.ac.jp.ORCID http://orcid.org/0000-0001-5525-7362
Bobby G Ng *Human Genetics Program, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, California, USA.ORCID http://orcid.org/0000-0003-0649-848X
Amy L White *Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.ORCID http://orcid.org/0000-0001-8226-615X
Kim K NickanderBiochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Coleman TurgeonBiochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Kristen L LiedtkeBiochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Christina T LamCenter for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
Esperanza Font-MontgomeryUniversity Hospital Medical Genetics Clinic, University of Missouri, Columbia, Missouri, USA.
Charles M LourencoDepartment of Medical Genetics, School of Medicine, Neurogenetics Unit, University, Sao Paulo, Sao Paulo, Brazil.
Miao HeDepartment of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Dawn S PeckBiochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Luis A UmanaDivision of Genetics and Metabolism, Department of Pediatrics, The University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Crescenda L UhlesDepartment of Genetics, Children's Medical Center Dallas, Dallas, Texas, USA.
Devon HaynesDivision of Genetics, Arnold Palmer Hospital for Children, Orlando, Florida, USA.
Patricia G WheelerDivision of Genetics, Arnold Palmer Hospital for Children, Orlando, Florida, USA.
Michael J BamshadDepartment of Pediatrics, University of Washington, Seattle, Washington, USA.
Deborah A NickersonProfessor of Genome Sciences and Bioengineering, University of Washington, Seattle, Washington, USA.
Tom CushingDivision of Pediatric Genetics, Department of Pediatrics, University of New Mexico School of Medicine, Albuquerque, New Mexico, USA.
Ryan GatesDivision of Medical Genetics, Stanford University, Stanford, California, USA.
Natalia Gomez-OspinaDivision of Medical Genetics, Stanford University, Stanford, California, USA.
Heather M ByersDivision of Medical Genetics, Stanford University, Stanford, California, USA.
UW Center for Mendelian Genomics
Fernanda B ScalcoLaboratório de Erros Inatos do Metabolismo/LABEIM, Instituto de Química, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
Noelia N MartinezCenter for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia.
Rani SachdevCenter for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia.
Lacey SmithDepartment of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Annapurna PoduriDepartment of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Stephen MaloneDepartment of Neurosciences, Queensland Children's Hospital, South Brisbane, Queensland, Australia.
Rebekah V HarrisDepartment of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.ORCID http://orcid.org/0000-0002-2648-7828
Ingrid E SchefferDepartment of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.ORCID http://orcid.org/0000-0002-2311-2174
Sergio D RosenzweigDepartment of Laboratory Medicine, Clinical Center, and Primary Immunodeficiency Clinic, National Institute of Allergy and Infectious Diseases, Bethesda, Maryland, USA.
David R AdamsMedical Genetic Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.
William A GahlMedical Genetic Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.
May Christine V Malicdan *Medical Genetic Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.ORCID http://orcid.org/0000-0003-1697-6959
Kimiyo M Raymond *Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Hudson H Freeze *Human Genetics Program, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, California, USA.
Lynne A Wolfe *Medical Genetic Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.
Mayo Clinic · USNational Institutes of Health · USMedical Genetics Center · DEUniversity of Washington · USArnold Palmer Hospital for Children · USBoston Children's Hospital · USSanford Burnham Prebys Medical Discovery Institute · USChildren's Health Queensland Hospital and Health Service · AUChildren's Hospital of Philadelphia · USChildren's Medical Center · USNational Institute of Allergy and Infectious Diseases · USPediatrics and Genetics · USRoyal Children's Hospital · AUSydney Children's Hospital · AUThe University of Melbourne · AUUniversidade de Ribeirão Preto · BRUniversidade Federal do Rio de Janeiro · BRUniversity of Missouri Hospital · USUniversity of New Mexico · USUNSW Sydney · AU

Funding

Human Biochemical GeneticsZIAHG000215 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2009 to 2025
$72.6M
UW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3M
Genetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI SCOTT Loren POMEROY, MUSTAFA SAHIN · 2021 to 2026
$9.4M
Pilot and Feasibility CoreU54NS115198 · NINDS · MAYO CLINIC ROCHESTER · PI LAM, CHRISTINA · 2019 to 2023
$8.2M
New Congenital Disorders of Glycosylation: Therapy and ModelsR01DK099551 · NIDDK · SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE · PI Hudson H. Freeze · 2014 to 2026
$6.7M
NHGRI Genome Sequencing Program Coordinating CenterU24HG008956 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI BUYSKE, STEVEN G, MATISE, TARA C. · 2016 to 2020
$4.9M
Intramural NIH HHS Z99 HG999999NHGRI NIH HHS U24 HG008956NHGRI NIH HHS UM1 HG006493NICHD NIH HHS P50 HD105351NIDDK NIH HHS R01 DK099551NINDS NIH HHS U54 NS115198
6 · The paper itself

Abstract

purposeTo 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

methodsPhenotypic 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.

resultsClinical phenotyping revealed heterogeneity in MOGS-CDG, including neurological, immunological and skeletal phenotypes. Bi-allelic variants in

conclusionThe 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.

Indexed as

central nervous system diseasesdiagnosisglycomicshuman geneticssequence analysis, DNA

Identifiers

PMID35790351
PMCPMC9813274
OpenAlexW4283827767

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.