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©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
Updated clinical and glycomic features of mannosyl-oligosaccharide glucosidase deficiency: Two case reports
Kuerbanjiang Abuduxikuer, Lei Wang, Lin Zou, Cui-Yan Cao, Long Yu, Hong-Mei Guo, Xin-Miao Liang, Jian-She Wang, Li Chen
Kuerbanjiang Abuduxikuer, Jian-She Wang, Department of Hepatology, Children's Hospital of Fudan University, Shanghai 201102, China
Lei Wang, Department of Research and Development, SysDiagno Biomedtech, Nanjing 211800, Jiangsu Province, China
Lin Zou, Li Chen, Department of Medical Microbiology, Key Laboratory of Medical Molecular Virology of Ministries of Education and Health, School of Basic Medical Sciences, Fudan University, Shanghai 200032, China
Cui-Yan Cao, Long Yu, Xin-Miao Liang, Dalian Institute of Chemical Physics, Chinese Academy of Science, Dalian 116023, Liaoning Province, China
Hong-Mei Guo, Department of Gastroenterology, Children's Hospital Affiliated to Nanjing Medical University, Nanjing 210008, Jiangsu Province, China
Author contributions: Wang JS and Chen L designed the study and approved the final submission; Abuduxikuer K collected and analyzed the clinical data and collected blood samples for further glycosylation studies; Wang L, Cao CY, Zou L, Yu L, Liang XM and Chen L analyzed the glycosylation data and proposed the MOGS-dependent glycosylation model; Wang JS and Abuduxikuer K clinically managed the patient; Guo HM provided in-patient information from the provincial level hospital; Abuduxikuer K, Wang L and Zou L co-wrote the manuscript and contributed equally to this study; Wang JS and Chen L agreed to serve as contacts for future correspondence.
Supported by National Science and Technology Major Project, No. 2014ZX09101046-004 (to Chen L); and National Natural Science Foundation of China, Nos. 81873543 and 81570468 (to Wang JS).
Informed consent statement: Written informed consent was obtained from the parents for publication of personal information and images contained in this article. Parental consent was also obtained for the glycosylation study and compassionate treatment with oral D-galactose.
Conflict-of-interest statement: The authors have no competing interests to declare.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:
https://creativecommons.org/Licenses/by-nc/4.0/ Corresponding author: Li Chen, PhD, Professor, Department of Medical Microbiology, Key Laboratory of Medical Molecular Virology of Ministries of Education and Health, School of Basic Medical Sciences, Fudan University, No. 220 Handan Road, Shanghai 200032, China.
lichen_bk@fudan.edu.cn
Received: June 25, 2021
Peer-review started: June 25, 2021
First decision: September 1, 2021
Revised: September 16, 2021
Accepted: June 17, 2022
Article in press: June 17, 2022
Published online: July 26, 2022
Processing time: 381 Days and 6.2 Hours
BACKGROUND
Mannosyl-oligosaccharide glucosidase (MOGS) deficiency is an extremely rare type of congenital disorder of glycosylation (CDG), with only 12 reported cases. Its clinical, genetic, and glycomic features are still expanding. Our aim is to update the novel clinical and glycosylation features of 2 previously reported patients with MOGS-CDG.
CASE SUMMARY
We collected comprehensive clinical information, and conducted the immunoglobulin G1 glycosylation assay using nano-electrospray ionization source quadruple time-of-flight mass spectrometry. Novel dysmorphic features included an enlarged tongue, forwardly rotated earlobes, a birth mark, overlapped toes, and abnormal fat distribution. Novel imaging findings included pericardial effusion, a deep interarytenoid groove, mild congenital subglottic stenosis, and laryngomalacia. Novel laboratory findings included peripheral leukocytosis with neutrophil predominance, elevated C-reactive protein and creatine kinase, dyslipidemia, coagulopathy, complement 3 and complement 4 deficiencies, decreased proportions of T lymphocytes and natural killer cells, and increased serum interleukin 6. Glycosylation studies showed a significant increase of hypermannosylated glycopeptides (Glc3Man7GlcNAc2/N2H10 and Man5GlcNAc2/N2H5) and hypersialylated glycopeptides. A compensatory glycosylation pathway leading to an increase in Man5GlcNAc2/N2H5 was indicated with the glycosylation profile.
CONCLUSION
We confirmed abnormal glycomics in 1 patient, expanding the clinical and glycomic spectrum of MOGS-CDG. We also postulated a compensatory glycosylation pathway, leading to a possible serum biomarker for future diagnosis.
Core Tip: We updated the clinical and glycosylation features of 2 previously published patients with mannosyl-oligosaccharide glucosidase-congenital disorders of glycosylation (MOGS-CDG) by confirming abnormal glycomics and expanding the phenotypical and glycomic spectrum of MOGS-CDG. We also postulated a compensatory glycosylation pathway, leading to a possible serum biomarker for future diagnosis.
