A Possible Genotype-Phenotype Correlation in Ashkenazi-Jewish Individuals With Aicardi-Goutières Syndrome Associated With SAMHD1 Mutation. (March 2015)

• Record Type: Journal Article
• Authors: Straussberg, Rachel; Marom, Daphna; Sanado-Inbar, Esther; Lakovsky, Yaniv; Horev, Gadi; Shalev, Stavit A.; Lev, Dorit; Lerman-Sagie, Tally; Leshinsky-Silver, Esther
• Is Part Of: Journal of child neurology. Volume 30:Number 4(2015:Mar.)
• Page Start: 490
• Page End: 495
• Publication Date: 2015-03
• Subjects: Ashkenazi-Jewish -- FTT -- irritability -- microcephaly -- seizures -- Aicardi-Goutières; Nervous system -- Diseases -- Periodicals; 618.928
• DOI: 10.1177/0883073814549241
• Languages: English
• ISSNs: 0883-0738

Abstract

Aicardi-Goutières syndrome is a genetic neurodegenerative disorder with clinical symptoms mimicking a congenital viral infection. Mutations in 6 genes are known to cause the disease: 3 prime repair exonuclease1, ribonucleases H2A, B, and C, SAM domain and HD domain 1, and most recently ADAR1 . HD domain 1 mutations were previously reported in the Ashkenazi-Jewish community. We report an additional patient of Ashkenazi-Jewish descent and review the other 3 cases affected with Aicardi-Goutières syndrome due to SAM domain and HD domain 1 ( SAMHD1 ) mutations described in Israel. We propose that there may be a phenotypic-genotypic correlation in accordance with the type of mutations inherited in the SAMHD1 genotype and suggest that Aicardi-Goutières syndrome may not be a rare disease in the Ashkenazi-Jewish population.