Aicardi-Goutieres syndrome 3 is an autosomal recessive disorder caused by mutations of the RNASEH2C gene. Aicardi-Goutieres syndrome is characterized by subacute encephalopathy with basal ganglia calcification, cystic leukodystrophy, lymphocytosis of the cerebrospinal fluid. The onset is usually soon after birth, but also milder cases with normal cognitive function have been reported.
The prevalence of all types of Aicardi-Goutieres syndrome is less than 1-5:10,000.
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Crow YJ et al. (2006) Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. |
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Vogt J et al. (2013) Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C. |
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Wikipedia article Wikipedia EN (Aicardi–Goutières_syndrome) |