title: A possible genotype-phenotype correlation in Ashkenazi-Jewish individuals with Aicardi-Goutières syndrome associated with SAMHD1 mutation.
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.
authors.affiliation: Neurogenetic Clinic, Department of Child Neurology, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel rachels2@clalit.org.il.
authors.forename: Rachel
authors.initials: R
authors.lastname: Straussberg
authors.affiliation: Neurogenetic Clinic, Department of Child Neurology, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikvah, Israel Pediatrics A, Schneider Children's Medical Center of Israel, Petach Tikva, Israel Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel.
authors.forename: Daphna
authors.initials: D
authors.lastname: Marom
authors.affiliation: Neurogenetic Clinic, Department of Child Neurology, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel.
authors.forename: Esther
authors.initials: E
authors.lastname: Sanado-Inbar
authors.affiliation: Neurogenetic Clinic, Department of Child Neurology, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel Department of Radiology, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel.
authors.forename: Yaniv
authors.initials: Y
authors.lastname: Lakovsky
authors.affiliation: Neurogenetic Clinic, Department of Child Neurology, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel Department of Radiology, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel.
authors.forename: Gadi
authors.initials: G
authors.lastname: Horev
authors.affiliation: Neurogenetic Clinic, Department of Child Neurology, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel The Genetics Institute, Ha'emek Medical Center, Afula and the Rappaport Faculty of Medicine, Technion, Haifa, Israel.
authors.forename: Stavit A
authors.initials: SA
authors.lastname: Shalev
authors.affiliation: Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel.
authors.forename: Dorit
authors.initials: D
authors.lastname: Lev
authors.affiliation: Neurogenetic Clinic, Department of Child Neurology, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel.
authors.forename: Tally
authors.initials: T
authors.lastname: Lerman-Sagie
authors.affiliation: Neurogenetic Clinic, Department of Child Neurology, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel.
authors.forename: Esther
authors.initials: E
authors.lastname: Leshinsky-Silver
mesh_terms: D020274:Autoimmune Diseases of the Nervous System / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000473:pathology; D002533:Cerebral Angiography; D002648:Child; D004453:Echoencephalography; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D007223:Infant; D007585:Jews / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D020559:Monomeric GTP-Binding Proteins / Q000235:genetics*; D009154:Mutation; D009421:Nervous System Malformations / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D000076106:SAM Domain and HD Domain-Containing Protein 1; D014057:Tomography, X-Ray Computed
chemical_list: D000076106:SAM Domain and HD Domain-Containing Protein 1; C484280:SAMHD1 protein, human; D020559:Monomeric GTP-Binding Proteins
keywords: Aicardi-Goutières; Ashkenazi-Jewish; FTT; irritability; microcephaly; seizures