Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
central nervous system diseases
diagnosis
glycomics
human genetics
sequence analysis, DNA
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
05 Jul 2022
05 Jul 2022
Historique:
received:
21
10
2021
accepted:
18
04
2022
pmc-release:
05
01
2024
entrez:
5
7
2022
pubmed:
6
7
2022
medline:
6
7
2022
Statut:
aheadofprint
Résumé
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 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 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.
Identifiants
pubmed: 35790351
pii: jmedgenet-2021-108177
doi: 10.1136/jmedgenet-2021-108177
pmc: PMC9813274
mid: NIHMS1817980
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NICHD NIH HHS
ID : P50 HD105351
Pays : United States
Organisme : NIDDK NIH HHS
ID : R01 DK099551
Pays : United States
Organisme : NINDS NIH HHS
ID : U54 NS115198
Pays : United States
Organisme : Intramural NIH HHS
ID : Z99 HG999999
Pays : United States
Investigateurs
Michael J Bamshad
(MJ)
Deborah A Nickerson
(DA)
Peter Anderson
(P)
Tamara J Bacus
(TJ)
Elizabeth E Blue
(EE)
Katherine Brower
(K)
Kati J Buckingham
(KJ)
Jessica X Chong
(JX)
Colleen P Davis
(CP)
Chayna J Davis
(CJ)
Christian D Frazar
(CD)
Katherine Gomeztagle-Burgess
(K)
William W Gordon
(WW)
Martha Horike-Pyne
(M)
Jameson R Hurless
(JR)
Gail P Jarvik
(GP)
Eric Johanson
(E)
J Thomas Kolar
(J)
Colby T Marvin
(CT)
Sean McGee
(S)
Daniel J McGoldrick
(DJ)
Betselote Mekonnen
(B)
Patrick M Nielsen
(PM)
Karynne Patterson
(K)
Aparna Radhakrishnan
(A)
Matthew A Richardson
(MA)
Gwendolin T Roote
(GT)
Erica L Ryke
(EL)
Kathryn M Shively
(KM)
Joshua D Smith
(JD)
Monica Tackett
(M)
Jeffrey M Weiss
(JM)
Marsha M Wheeler
(MM)
Qian Yi
(Q)
Xiaohong Zhang
(X)
Informations de copyright
© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.
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