Aicardi-Goutieres syndrome 4

Aicardi-Goutieres syndrome 4 is an autosomal recessive disorder caused by mutations of the RNASEH2A 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.

Epidemiology

The prevalence of all types of Aicardi-Goutieres syndrome is less than 1-5:10,000.

Systematic

Aicardi-Goutieres syndrome
	Aicardi-Goutieres syndrome 1
	Aicardi-Goutieres syndrome 2
	Aicardi-Goutieres syndrome 3
	Aicardi-Goutieres syndrome 4
		RNASEH2A
	Aicardi-Goutieres syndrome 5
	Aicardi-Goutieres syndrome 6
	Aicardi-Goutieres syndrome 7

References:

1.	Sanchis A et al. (2005) Genetic syndromes mimic congenital infections.

2.	Crow YJ et al. (2006) Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

3.	Rice G et al. (2007) Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

4.	Rice GI et al. (2013) Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.

5.	Wikipedia article Wikipedia EN (Aicardi–Goutières_syndrome)