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GENATLAS PHENOTYPE
last update : 17-01-2012
Symbol AGS4
Location 19p13.2
Name Aicardi-Goutieres syndrome 4
Corresponding gene RNASEH2A
Main clinical features
  • cerebral atrophy, leukodystrophy, intracranial calcifications, chronic . cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections (mimic congenital viral brain infection)
  • early death ( the majority by age 10 years)
  • frequent chilblain lesions
  • mimics congenital viral infection with evidence of high interferon-alpha levels in serum and cerebrospinal fluid (PMID: 21454563))
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    Remark(s)
  • missense mutations in RNASEH2A encoding the catalytic subunit are distributed throughout the gene, exhibit a spectrum of effects on the catalytic competency of this enzyme (PMID: 21454563))