Aicardi-Goutieres syndrome 2

Aicardi-Goutieres syndrome 2 is an autosomal recessive disorder caused by mutations of the RNASEH2B 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
		RNASEH2B
	Aicardi-Goutieres syndrome 3
	Aicardi-Goutieres syndrome 4
	Aicardi-Goutieres syndrome 5
	Aicardi-Goutieres syndrome 6
	Aicardi-Goutieres syndrome 7

References:

1.	Crow YJ et al. (2014) Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.

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

3.	Ali M et al. (2006) A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21.

4.	Wikipedia article Wikipedia EN (Aicardi–Goutières_syndrome)