An overview of genetic mutations in Aicardi-Goutières syndrome in Iranian population

Aicardi–Goutières syndrome (AGS) is a rare neurodevelopmental disorder that can be misdiagnosed with infectious disorders. Molecular genetics tools and subsequent counseling have an important role in the estimation of recurrence risk and prevention of additional cases in the family. The current study provides an overview of genetic mutations in AGS in Iranian population. In a time period of 3 years, we assessed nine AGS cases and identified the underlying mutations using whole exome sequencing. Mutations were located in TREX1, IFIH1, RNASEH2B, RNASEH2A and SAMHD1 genes and inherited in either autosomal dominant or autosomal recessive manner. Since both modes of inheritance have been previously reported for AGS, appropriate genetic counseling is needed for estimation of recurrence risk in families.