Article
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
Nature genetics - 1 Aug 2006
Crow Yanick J, Leitch Andrea, Hayward Bruce E, Garner Anna, Parmar Rekha, Griffith Elen, Ali Manir, Semple Colin, Aicardi Jean, Babul-Hirji Riyana, Baumann Clarisse, Baxter Peter, Bertini Enrico, Chandler Kate E, Chitayat David, Cau Daniel, Déry Catherine, Fazzi Elisa, Goizet Cyril, King Mary D, Klepper Joerg, Lacombe Didier, Lanzi Giovanni, Lyall Hermione, Martínez-Frías María Luisa, Mathieu Michèle, McKeown Carole, Monier Anne, Oade Yvette, Quarrell Oliver W, Rittey Christopher D, Rogers R Curtis, Sanchis Amparo, Stephenson John B P, Tacke Uta, Till Marianne, Tolmie John L, Tomlin Pam, Voit Thomas, Weschke Bernhard, Woods C Geoffrey, Lebon Pierre, Bonthron David T, Ponting Chris P, Jackson Andrew P
Abstract excerpt
Aicardi-Goutières 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...
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