Patient whole blood RNA-seq analysis revealed the cholesterol biosynthesis gene dysregulation was not specific for SAMHD1-related AGS, indicating this observation cannot be directly attributed to the AGS5-related cerebrovasculopathy, as comparable effects were observed within AGS2-4 and 6-7 genetic subtypes. The gene discussed is SAMHD1; the disease is Aicardi-Goutieres syndrome.