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Characteristic dysmorphic features in congenital disorders of glycosylation type IIb

Abstract

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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Acknowledgements

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).

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Correspondence to Beom Hee Lee.

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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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