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Nature Genetics 38, 910–916 (1 August 2006) | doi:10.1038/ng1842

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Gouti|[egrave]|res syndrome and mimic congenital viral brain infection

Yanick J Crow , Andrea Leitch , Bruce E Hayward , Anna Garner , Rekha Parmar , Elen Griffith , Manir Ali , Colin Semple , Jean Aicardi , Riyana Babul-Hirji , Clarisse Baumann , Peter Baxter , Enrico Bertini , Kate E Chandler , David Chitayat , Daniel Cau , Catherine D|[eacute]|ry , Elisa Fazzi , Cyril Goizet , Mary D King , Joerg Klepper , Didier Lacombe , Giovanni Lanzi , Hermione Lyall , Mar|[iacute]|a Luisa Mart|[iacute]|nez-Fr|[iacute]|as , Mich|[egrave]|le Mathieu , Carole McKeown , Anne Monier , Yvette Oade , Oliver W Quarrell , Christopher D Rittey , R Curtis Rogers , Amparo Sanchis , John B P Stephenson , Uta Tacke , Marianne Till , John L Tolmie , Pam Tomlin , Thomas Voit , Bernhard Weschke , C Geoffrey Woods , Pierre Lebon , David T Bonthron , Chris P Ponting & Andrew P Jackson

Aicardi-Gouti|[egrave]|res syndrome (AGS) is an autosomal recessive neurological disorder, the clinical and immunological features of which parallel those of congenital viral infection. Here we define the composition of the human ribonuclease H2 enzyme complex and show that AGS can result from mutations in the genes encoding any one of its three subunits. Our findings demonstrate a role for ribonuclease H in human neurological disease and suggest an unanticipated relationship between ribonuclease H2 and the antiviral immune response that warrants further investigation.