Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

J. Crow, Yanick; Chase, Diana; L. Schmidt, Johanna; Szynkiewicz, Marcin; Forte, Gabriella; Gornall, Hannah; Oojageer, Anthony; Anderson, Beverley; Pizzino, Amy; Helman, Guy; S. Abdel‐Hamid, Mohamed; M. H. Abdel‐Salam, Ghada; Ackroyd, Sam; Aeby, Alec; Agosta, Guillermo; S. W. Albin, Catherine; A. Shalev, Stavit; Arellano, Montse; Ariaudo, Giada; Aswani, Vijay; Babul‐Hirji, Riyana; Baildam, Eileen; Bahi‐Buisson, Nadia; Bailey, Kathryn; Barnérias, Christine; Barth, Magalie; Battini, Roberta; W. Beresford, Michael; Bernard, Geneviève; Bianchi, Marika; Billette de Villemeur, Thierry; Blair, Edward; Bloom, Miriam; Burlina, Alberto; Luisa Carpanelli, Maria; R. Carvalho, Daniel; Castro‐Gago, Manuel; Cavallini, Anna; Cereda, Cristina; Chandler, Kate; Chitayat, David; E. Collins, Abigail; Sierra Córcoles, Concepción; Cordeiro, Nuno; Crichiutti, Giovanni; Dabydeen, Lyvia; C. Dale, Russell; D’Arrigo, Stefano; G E L De Goede, Christian; De Laet, Corinne; M. H. De Waele, Liesbeth; María Denzler, Inés; Desguerre, Isabelle; Devriendt, Koenraad; Di Rocco, Maja; Fahey, Michael; Fazzi, Elisa; D. Ferrie, Colin; Figueiredo, António; Gener, Blanca; Goizet, Cyril; Gowrinathan, Nirmala; Gowrishankar, Kalpana; Hanrahan, Donncha; Isidor, Bertrand; Kara, Bülent; Khan, Naz; D. King, Mary; P. Kirk, Edwin; Kumar, Ram; Lagae, Lieven; Landrieu, P.; Lauffer, Heinz; Laugel, Vincent; La Piana, Roberta; Lim, Ming; Lin, Jean‐Pierre; Linnankivi, Tarja; T. Mackay, Mark; Marom, Daphna; Marques Lourenço, Charles; McKee, Shane; Moroni, Isabella; E.V. Morton, Jenny; Moutard, Marie‐Laure; Murray, Kevin; Nabbout, Rima; Nampoothiri, Sheela; Núñez‐Enamorado, Noemí; Oades, P.J.; Olivieri, Ivana; R. Østergaard, John; Pérez‐Dueñas, Belén; Prendiville, Julie; Ramesh, Venkateswaran; Rasmussen, Magnhild; Régal, Luc; Ricci, Federica; Rio, Marlène; Rodriguez, Diana; Roubertie, Agathe; Salvatici, E.; Segers, Karin; Sinha, G; Soler, Doriette; Spiegel, Ronen; Stödberg, Tommy; Straussberg, Rachel; J. Swoboda, Kathryn; Suri, Mohnish; Tacke, Uta; Yang Tan, Tiong; te Water Naudé, Johann; Wee Teik, Keng; Thomas, Maya; Till, Marianne; Tonduti, Davide; Maria Valente, Enza; N. Van Coster, Rudy; S. van der Knaap, Marjo; Vassallo, Grace; Vijzelaar, Raymon; Vogt, Julie; Wallace, Geoffrey; Wassmer, Evangeline; J. Webb, Hannah; Whitehouse, William; Whitney, Robyn; S. Zaki, Maha; M. Zuberi, Sameer; H. Livingston, John; Rozenberg, Flore; Lebon, Pierre; Vanderver, Adeline; Orcesi, Simona; Rice, Gillian

doi:10.1002/ajmg.a.36887

Public

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

Published in American Journal of Medical Genetics Part A • Jan 16, 2015

Authors:

Yanick J. Crow

Diana Chase

Johanna L. Schmidt

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 pr...

Subject

Medicine

Encephalopathy

Compound heterozygosity

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