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GENATLAS PHENOTYPE
last update : 26/03/2008
Symbol CDG2H
Location 16q22.1
Name congenital disorder of glycosylation, type 2H
Other name(s) congenital disorder of glycosylation, type IIb
Corresponding gene COG8
Other symbol(s) CDGIIh
Main clinical features
  • neurological deficiency with mental retardation, acute encephalopathy and loss of psychomotor abilities, hypotonia, alternating esotropia, seizures, pseudo-ptosis and mental retardation with a cerebellar syndrome (prominent ataxia and action myoclonus), growth delay and short stature
  • nerve biopsy showed chronic axonal neuropathy and a muscle biopsy showed a neurogenic process, but no evidence of a mitochondrial disorder ; MRI showed ventriculomegali with atrophy, and sonar spectroscopy revealed high levels of lactate in the gray matter
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    metabolism/carbohydrates
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   truncated protein leads to a premature stop codon resulting in a truncated subunit lacking the 76 C-terminal AAs (defect in N- and O-glycosylation is caused by the disruption of the COG1-COG8 interaction due to truncation)
    Remark(s)