Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

  title={Clinical and molecular phenotype of Aicardi-Goutieres syndrome.},
  author={Gillian I Rice and Teresa Patrick and Rekha Parmar and Claire Fraser Taylor and Alec Aeby and J. P. Aicardi and Rafael Artuch and Simon Attard Montalto and Carlos A Bacino and Bruno Barroso and Peter Baxter and Willam S Benko and Carsten Bergmann and Enrico Bertini and Roberta Biancheri and Edward M. Blair and Nenad Blau and David T. Bonthron and Tracy A Briggs and Louise A. Brueton and Han G. Brunner and Christopher J. Burke and Ian M. Carr and Daniel Rocha Carvalho and Kate E. Chandler and Hans-Jurgen Christen and Peter C Corry and F M Cowan and Helen E Cox and Stefano D'Arrigo and John F. Dean and Corinne de Laet and Claudine De Praeter and C. Dery and Colin D. Ferrie and Kim Flintoff and Suzanna G M Frints and {\`A}ngels Garc{\'i}a-Cazorla and Blanca Gener and Cyril Goizet and Françoise Gouti{\`e}res and Andrew J. Green and Agn{\`e}s Guet and Ben C J Hamel and Bruce E. Hayward and Arvid Heiberg and Raoul C Hennekam and M. -C. Husson and Andrew P. Jackson and Rasieka Jayatunga and Yong-hui Jiang and Sarina G. Kant and Amy Kao and Mary Dolores King and H. M. Kingston and Joerg Klepper and Marjo S. van der Knaap and Andrew J. Kornberg and Dieter Kotzot and Wilfried Kratzer and D Lacombe and Lieven Lagae and Pierre Georges Landrieu and Giovanni Lanzi and Andrea L Leitch and Ming J Lim and John H Livingston and Charles M Lourenço and E G Hermione Lyall and Sally Ann Lynch and Michael J. Lyons and Daphna R Marom and J. Peter McClure and Robert McWilliam and Serge B. Melançon and Leena Duvika Mewasingh and M L Moutard and Ken Kanwal Nischal and John Rosendahl Ostergaard and Julie S. Prendiville and M Rasmussen and Richard Curtis Rogers and Dominique Roland and Elisabeth M Rosser and Kevin Rost{\'a}sy and Agathe Roubertie and Amparo Sanchis and Raphael Schiffmann and Sabine Scholl-Burgi and Sunita Seal and Stavit Allon Shalev and C{\'e}sar C{\'o}rcoles and Gyan P Sinha and Doriette Soler and Ronen Spiegel and John B. P. Stephenson and Uta Tacke and Tiong Yang Tan and Marianne Till and J. Tolmie and Pam Tomlin and Federica Vagnarelli and Enza Maria Valente and Rudy Noel Van Coster and Nathalie van der Aa and Adeline Vanderver and Johan Sh Vles and Thomas Voit and Evangeline Wassmer and Bernhard Weschke and Margo Whiteford and Mich{\`e}l A. A. P. Willemsen and Andreas Zankl and Sameer M Zuberi and Simona Orcesi and Elisa Fazzi and Pierre Lebon and Yanick J Crow},
  journal={American journal of human genetics},
  volume={81 4},
Aicardi-Goutieres syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3'-->5' exonuclease TREX1 and the three subunits of the RNASEH2 endonuclease complex. To define the molecular spectrum of AGS, we performed mutation screening in patients, from 127 pedigrees, with a clinical diagnosis of the disease. Biallelic mutations in TREX1, RNASEH2A, RNASEH2B… CONTINUE READING