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.

journal_name

J Hum Genet

authors

Kim YM,Seo GH,Jung E,Jang JH,Kim SZ,Lee BH

doi

10.1038/s10038-017-0386-7

subject

Has Abstract

pub_date

2018-03-01 00:00:00

pages

383-386

issue

3

eissn

1434-5161

issn

1435-232X

pii

10.1038/s10038-017-0386-7

journal_volume

63

pub_type

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