Aicardi-Goutieres Syndrome (SAMHD1)
Aicardi-Goutieres syndrome is an autosomal recessive disorder caused by pathogenic variants in the gene SAMHD1. Pathogenic SAMHD1 variants may be found in people of any ethnicity, but due to founder mutations they are more common in the Ashkenazi Jewish and Amish populations. Babies with Aicardi-Goutieres Syndrome develop normally for several months but then begin to develop encephalopathy (brain disease). Symptoms include loss of previously learned skills, intermittent fever, spasticity, low muscle tone, and seizures. The effect on intellect ranges from severe intellectual disability to normal intellect. The effect on life expectancy is not known, and it is not currently possible to predict the severity of symptoms based on the inherited variants.
For information about carrier frequency and residual risk, please see the Expanded Carrier Screen brochure.