Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) IIb

Li, Min; Xu, Yuanyuan; Wang, Yajian; Yang, Xiu‐An; Jin, Di

doi:10.1038/s10038-018-0552-6

Cited by 17 publications

(19 citation statements)

References 12 publications

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Section: Discussionmentioning

confidence: 99%

“…Seven MOGS‐CDG patients have been reported; age at last examination ranged from a few months to 11 years (de Praeter et al, 2000; Sadat et al, 2014; Kim et al, 2018; Li et al, 2019; Peiwei Zhao et al, 2020). Three patients died in their first years of life (Li et al, 2019; de Praeter et al, 2000; Kim et al, 2018). Despite showing some typical characteristics of congenital glycosylation defects (prominent CNS involvement, multisystem disease, and severe psychomotor disability) (Fiumara et al, 2016; Jaeken and van den Heuvel, 2014), patients with MOGS‐CDG are distinguished by some peculiar features.…”

Section: Discussionmentioning

confidence: 99%

“…MOGS‐CDG is due to glucosidase I deficiency. Seven patients from five families have been reported worldwide (de Praeter et al, 2000; Sadat et al, 2014; Kim et al, 2018; Li et al, 2019; Peiwei Zhao et al, 2020). We describe a 19‐year‐old girl with MOGS‐CDG, who showed a peculiar movement disorder in the first years of life followed later by global dystonia.…”

Section: Introductionmentioning

confidence: 99%

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Epilepsy and movement disorders in CDG: Report on the oldest‐known MOGS‐CDG patient

Barco

Osanni

Bordugo

et al. 2020

American J of Med Genetics Pt A

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Congenital glycosylation disorders (CDG) are inherited metabolic diseases due to defective glycoprotein and glycolipid glycan assembly and attachment. MOGS‐CDG is a rare disorder with seven patients from five families reported worldwide. We report on a 19‐year‐old girl with MOGS‐CDG. At birth she presented facial dysmorphism, marked hypotonia, and drug‐resistant tonic seizures. In the following months, her motility was strongly limited by dystonia, with forced posture of the head and of both hands. She showed a peculiar hyperkinetic movement disorder with a rhythmic and repetitive pattern repeatedly documented on EEG‐polygraphy recordings. Brain MRI showed progressive cortical and subcortical atrophy. Epileptic spasms appeared in first months and ceased by the age of 7 years, while tonic seizures were still present at last assessment (19 years). We report the oldest‐known MOGS‐CDG patient and broaden the neurological phenotype of this CDG.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Epilepsy and movement disorders in CDG: Report on the oldest‐known MOGS‐CDG patient

Barco

Osanni

Bordugo

et al. 2020

American J of Med Genetics Pt A

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“…83 Case studies of 6 patients have reported variable infection rates and a complex influence on vaccine responses. 63,64,84 B2M deficiency presents with a complex immunologic picture, myotonic dystrophy, and mannosyl-oligosaccharide glucosidasecongenital disorders of glycosylation selectively shorten the halflife of IgG without impacting IgA, IgM, IgE, or other components of the immune system. In addition, in each of these conditions, reductions in IgG do not appear to correlate directly with infection risk.…”

Section: Genetic Disorders With Mechanistic Similarities To Inhibitiomentioning

confidence: 99%

“… 83 Case studies of 6 patients have reported variable infection rates and a complex influence on vaccine responses. 63 , 64 , 84 …”

Section: What Can We Learn From Other Conditions and Therapies?mentioning

confidence: 99%

Targeting FcRn for immunomodulation: Benefits, risks, and practical considerations

Peter

Ochs

Cunningham‐Rundles

et al. 2020

Journal of Allergy and Clinical Immunology

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The neonatal fragment crystallizable (Fc) receptor (FcRn) functions as a recycling mechanism to prevent degradation and extend the half-life of IgG and albumin in the circulation. Several FcRn inhibitors selectively targeting IgG recycling are now moving rapidly toward clinical practice in neurology and hematology. These molecules accelerate the destruction of IgG, reducing pathogenic IgG and IgG immune complexes, with no anticipated effects on IgA, IgM, IgE, complement, plasma cells, B cells, or other cells of the innate or adaptive immune systems. FcRn inhibitors have potential for future use in a much wider variety of antibody-mediated autoimmune diseases. Given the imminent clinical use, potential for broader utility, and novel mechanism of action of FcRn inhibitors, here we review data from 4 main sources: (a) currently available activity, safety, and mechanism-of-action data from clinical trials of FcRn inhibitors; (b) other procedures and treatments that also remove IgG (plasma donation, plasma exchange, immunoadsorption); (c) diseases resulting in loss of IgG; and (d) primary immunodeficiencies with potential mechanistic similarities to those induced by FcRn inhibitors. These data have been evaluated to provide practical considerations for the assessment, monitoring, and reduction of any potential infection risk associated with FcRn inhibition, in addition to highlighting areas for future research.

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MOGS‐CDG: Quantitative analysis of the diagnostic Glc₃Man tetrasaccharide and clinical spectrum of six new cases

Post

Wit

Zijlstra

et al. 2023

J of Inher Metab Disea

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Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) IIb

Cited by 17 publications

References 12 publications

Epilepsy and movement disorders in CDG: Report on the oldest‐known MOGS‐CDG patient

Epilepsy and movement disorders in CDG: Report on the oldest‐known MOGS‐CDG patient

Targeting FcRn for immunomodulation: Benefits, risks, and practical considerations

MOGS‐CDG: Quantitative analysis of the diagnostic Glc₃Man tetrasaccharide and clinical spectrum of six new cases

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Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) IIb

Cited by 17 publications

References 12 publications

Epilepsy and movement disorders in CDG: Report on the oldest‐known MOGS‐CDG patient

Epilepsy and movement disorders in CDG: Report on the oldest‐known MOGS‐CDG patient

Targeting FcRn for immunomodulation: Benefits, risks, and practical considerations

MOGS‐CDG: Quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases

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MOGS‐CDG: Quantitative analysis of the diagnostic Glc₃Man tetrasaccharide and clinical spectrum of six new cases