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.
journal_name
J Hum Genetjournal_title
Journal of human geneticsauthors
Kim YM,Seo GH,Jung E,Jang JH,Kim SZ,Lee BHdoi
10.1038/s10038-017-0386-7subject
Has Abstractpub_date
2018-03-01 00:00:00pages
383-386issue
3eissn
1434-5161issn
1435-232Xpii
10.1038/s10038-017-0386-7journal_volume
63pub_type
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