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ABSTRACT: Purpose
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.Methods
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.Results
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.Conclusion
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.
SUBMITTER: Shimada S
PROVIDER: S-EPMC9813274 | biostudies-literature | 2022 Jul
REPOSITORIES: biostudies-literature
Shimada Shino S Ng Bobby G BG White Amy L AL Nickander Kim K KK Turgeon Coleman C Liedtke Kristen L KL Lam Christina T CT Font-Montgomery Esperanza E Lourenco Charles M CM He Miao M Peck Dawn S DS Umana Luis A LA Uhles Crescenda L CL Haynes Devon D Wheeler Patricia G PG Bamshad Michael J MJ Nickerson Deborah A DA Cushing Tom T Gates Ryan R Gomez-Ospina Natalia N Byers Heather M HM Scalco Fernanda B FB Martinez Noelia N NN Sachdev Rani R Smith Lacey L Poduri Annapurna A Malone Stephen S Harris Rebekah V RV Scheffer Ingrid E IE Rosenzweig Sergio D SD Adams David R DR Gahl William A WA Malicdan May Christine V MCV Raymond Kimiyo M KM Freeze Hudson H HH Wolfe Lynne A LA
Journal of medical genetics 20220705
<h4>Purpose</h4>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 <i>MOGS</i>.<h4>Methods</h4>Phenotypic characterisation was performed through an international and multicentre collaboration. Genetic testing was ...[more]