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CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION(CDGF)

MedGen UID:
917790
Concept ID:
CN248517
Disease or Syndrome
Synonyms: CDGF
 
Gene (location): FUT8 (14q23.3)
OMIM®: 618005

Definition

Congenital disorder of glycosylation with defective fucosylation is an autosomal recessive multisystemic disorder apparent from birth. Affected infants have poor growth, failure to thrive, hypotonia, skeletal anomalies, and delayed psychomotor development with intellectual disability. Additional highly variable congenital defects may be observed (summary by Ng et al., 2018). For an overview of congenital disorders of glycosylation (CDG), see CDG1A (212065) and CDG2A (212066). [from OMIM]

Recent clinical studies

Etiology

Lübke T, Marquardt T, Etzioni A, Hartmann E, von Figura K, Körner C
Nat Genet 2001 May;28(1):73-6. doi: 10.1038/88299. PMID: 11326280

Diagnosis

Hess D, Keusch JJ, Oberstein SA, Hennekam RC, Hofsteenge J
J Biol Chem 2008 Mar 21;283(12):7354-60. Epub 2008 Jan 16 doi: 10.1074/jbc.M710251200. PMID: 18199743

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