Khalilian Sheyda, Fathi Mohadeseh, Miryounesi Mohammad, Ghafouri-Fard Soudeh
Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Neurol Sci. 2025 Feb;46(2):999-1007. doi: 10.1007/s10072-024-07824-x. Epub 2024 Oct 29.
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.
艾卡迪-古铁雷斯综合征（AGS）是一种罕见的神经发育障碍，可能被误诊为感染性疾病。分子遗传学工具及后续咨询在评估复发风险和预防家族中更多病例方面具有重要作用。本研究概述了伊朗人群中AGS的基因突变情况。在3年时间里，我们评估了9例AGS病例，并通过全外显子组测序确定了潜在的突变。突变位于TREX1、IFI1H、RNASEH2B、RNASEH2A和SAMHD1基因中，以常染色体显性或常染色体隐性方式遗传。由于此前已报道AGS存在这两种遗传模式，因此需要进行适当的遗传咨询以评估家族中的复发风险。
