Over 100 types of congenital disorders of glycosylation (CDG) have been reported and the number is rapidly increasing. However, each type is very rare and is problematic to diagnose. Mannosyl-oligosaccharide glucosidase (MOGS)-CDG (CDG type IIb) is an extremely rare CDG that has only been reported in three patients from two unrelated families. Using targeted exome sequencing, we identified another patient affected by this condition. This patient had increased serum trisialotransferrin levels. Importantly, a review of the features of all four patients revealed the recognizable clinical hallmarks of MOGS-CDG. The distinct dysmorphic features of this condition include long eyelashes, retrognathia, hirsutism, clenched overlapped fingers, hypoventilation, hepatomegaly, generalized edema, and immunodeficiency.
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Freeze HH, Chong JX, Bamshad MJ, Ng BG. Solving glycosylation disorders: fundamental approaches reveal complicated pathways. Am J Hum Genet. 2014;94:161—75.
Varki A. Biological roles of glycans. Glycobiology. 2017;27:3—49.
Li, H. Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM. 2013 arXiv:1303.3997v2 [q-bio.GN].
Van Scherpenzeel M, Willems E, Lefeber DJ. Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylation. Glycoconj J. 2016;33:345—58.
De Praeter CM, Gerwig GJ, Bause E, Nuytinck LK, Vliegenthart JFG, Breuer W, et al. a novel disorder caused by defective biosynthesis of n-linked oligosaccharides due to glucosidase i deficiency. Am J Hum Genet. 2000;66:1744—56.
Sadat MA, Moir S, Chun TW, Lusso P, Kaplan G, Wolfe L, et al. Glycosylation, hypogammaglobulinemia, and resistance to viral infections. N Engl J Med. 2014;370:1615—25.
Jaeken J, Peanne R. What is new in CDG? J Inherit Metab Dis. 2017;40:569—86.
Scott K, Gadomski T, Kozicz T, Morava E. Congenital disorders of glycosylation: new defects and still counting. J Inherit Metab Dis. 2014;37:609—17.
Zuhlsdorf A, Park JH, Wada Y, Rust S, Reunert J, DuChesne I, et al. Transferrin variants: pitfalls in the diagnostics of Congenital disorders of glycosylation. Clin Biochem. 2015;48:11—13.
Guillard M, Morava E, de Ruijter J, Roscioli T, Penzien J, van den Heuvel L, et al. B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement. J Pediatr. 2011;159:1041—3.e1042.
Macchia PE, Harrison HH, Scherberg NH, Sunthornthepfvarakul T, Jaeken J, Refetoff S. Thyroid function tests and characterization of thyroxine-binding globulin in the carbohydrate-deficient glycoprotein syndrome type I. J Clin Endocrinol Metab. 1995;80:3744—49.
Mohamed M, Theodore M, der Grinten HC-v, van Herwaarden AE, Huijben K, van Dongen L, et al. Thyroid function in PMM2-CDG: Diagnostic approach and proposed management. Mol Genet Metab. 2012;105:681—83.
Kane MS, Davids M, Adams C, Wolfe LA, Cheung HW, Gropman A, et al. Mitotic intragenic recombination: A mechanism of survival for several congenital disorders of glycosylation. Am J Hum Genet. 2016;98:339—46.
We are grateful to the patient and his family for participating in this study. This work was supported by research funds from the National Research Foundation of Korea (NRF-2015K1A4A3046807).
Conflict of interest
The authors declare that they have no competing interests.
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Kim, YM., Seo, G.H., Jung, E. et al. Characteristic dysmorphic features in congenital disorders of glycosylation type IIb. J Hum Genet 63, 383–386 (2018). https://doi.org/10.1038/s10038-017-0386-7
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