Characteristic dysmorphic features in congenital disorders of glycosylation type IIb View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2017-12-13

AUTHORS

Yoon-Myung Kim, Go Hun Seo, Euiseok Jung, Ja-Hyun Jang, Sook Za Kim, Beom Hee Lee

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. More... »

PAGES

383-386

References to SciGraph publications

  • 2016-01-07. Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylation in GLYCOCONJUGATE JOURNAL
  • 2017-05-08. What is new in CDG? in JOURNAL OF INHERITED METABOLIC DISEASE
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/s10038-017-0386-7

    DOI

    http://dx.doi.org/10.1038/s10038-017-0386-7

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1099652255

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/29235540


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