1. A possible genotype-phenotype correlation in Ashkenazi-Jewish individuals with Aicardi-Goutières syndrome associated with SAMHD1 mutation.
- Author
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Straussberg R, Marom D, Sanado-Inbar E, Lakovsky Y, Horev G, Shalev SA, Lev D, Lerman-Sagie T, and Leshinsky-Silver E
- Subjects
- Autoimmune Diseases of the Nervous System diagnostic imaging, Autoimmune Diseases of the Nervous System pathology, Brain pathology, Cerebral Angiography, Child, Echoencephalography, Female, Genetic Association Studies, Humans, Infant, Magnetic Resonance Imaging, Male, Nervous System Malformations diagnostic imaging, Nervous System Malformations pathology, SAM Domain and HD Domain-Containing Protein 1, Tomography, X-Ray Computed, Autoimmune Diseases of the Nervous System genetics, Jews genetics, Monomeric GTP-Binding Proteins genetics, Mutation, Nervous System Malformations genetics
- 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., (© The Author(s) 2014.)
- Published
- 2015
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