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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 mutation	Chromosome rearrangement	Effect	Comments
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))