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Letter

Nature Genetics 38, 917–920 (1 August 2006) | doi:10.1038/ng1845

Mutations in the gene encoding the 3|[prime]|-5|[prime]| DNA exonuclease TREX1 cause Aicardi-Gouti|[egrave]|res syndrome at the AGS1 locus

Yanick J Crow , Bruce E Hayward , Rekha Parmar , Peter Robins , Andrea Leitch , Manir Ali , Deborah N Black , Hans van Bokhoven , Han G Brunner , Ben C Hamel , Peter C Corry , Frances M Cowan , Suzanne G Frints , Joerg Klepper , John H Livingston , Sally Ann Lynch , Roger F Massey , Jean Fran|[ccedil]|ois Meritet , Jacques L Michaud , Gerard Ponsot , Thomas Voit , Pierre Lebon , David T Bonthron , Andrew P Jackson , Deborah E Barnes & Tomas Lindahl

Aicardi-Gouti|[egrave]|res syndrome (AGS) presents as a severe neurological brain disease and is a genetic mimic of the sequelae of transplacentally acquired viral infection. Evidence exists for a perturbation of innate immunity as a primary pathogenic event in the disease phenotype.