Updated clinical and glycomic features of mannosyl-oligosaccharide glucosidase deficiency:Two case reports  

作　　者：Kuerbanjiang Abuduxikuer Lei Wang Lin Zou Cui-Yan Cao Long Yu Hong-Mei Guo Xin-Miao Liang Jian-She Wang Li Chen 

机构地区：[1]Department of Hepatology,Children's Hospital of Fudan University,Shanghai 201102,China [2]Department of Research and Development,SysDiagno Biomedtech,Nanjing 211800,Jiangsu Province,China [3]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 [4]Dalian Institute of Chemical Physics,Chinese Academy of Science,Dalian 116023,Liaoning Province,China [5]Department of Gastroenterology,Children's Hospital Affiliated to Nanjing Medical University,Nanjing 210008,Jiangsu Province,China

出　　处：《World Journal of Clinical Cases》2022年第21期7397-7408,共12页世界临床病例杂志

基　　金：Supported by National Science and Technology Major Project,No.2014ZX09101046-004(to Chen L);National Natural Science Foundation of China,Nos.81873543 and 81570468(to Wang JS).

摘　　要：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.

关 键 词：Mannosyl-oligosaccharide glucosidase MOGS-CDG Congenital disorder of glycosylation type IIb Mannosyl-oligosaccharide glucosidase gene Glycomics of IgG1 Case report 

分 类 号：R589[医药卫生—内分泌]