Journal article
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, HL Gornall, A Oojageer, B Anderson, A Pizzino, G Helman, MS Abdel-Hamid, GM Abdel-Salam, S Ackroyd, A Aeby, G Agosta, C Albin, S Allon-Shalev, M Arellano, G Ariaudo, V Aswani Show all
American Journal of Medical Genetics Part A | Published : 2015
DOI: 10.1002/ajmg.a.36887
Abstract
Aicardi-Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on 374 patients from 299 families with mutations in these seven genes. Most patients conformed to one of two fairly stereotyped clinical profiles; either exhibiting an in utero disease-onset (74 patients; 22.8% of all patients where data were available), or a post-natal presentation, usually within the first year of life (223 patients; 68.6%), characterized by a sub-acute encephalopathy and a loss of previously acquired skills. Other clinically distinct phenotypes were also observed; particularly, bilateral striatal necrosis (13 pati..
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Awarded by National Institutes of Health
Funding Acknowledgements
Grant sponsor: European Union's Seventh Framework Programme; Grant number: GA 241779; Grant sponsor: European Research Council; Grant number: GA 309449; Grant sponsor: National Research Agency (France) under the "Investments for the Future" program; Grant number: ANR-10-IAHU-01; Grant sponsor: Parsons Family Foundation.