Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières 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 Déry, Elisa Fazzi, Cyril Goizet, Mary D King, Joerg Klepper, Didier Lacombe, Giovanni Lanzi, Hermione Lyall, María Luisa Martínez-Frías, Michèle 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
Nat Genet. 2006-07-16; 38(8): 910-916
DOI: 10.1038/ng1842


Lire sur PubMed

---

1. Nat Genet. 2006 Aug;38(8):910-6. Epub 2006 Jul 16.

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières
syndrome and mimic congenital viral brain infection.

Crow YJ(1), Leitch A, Hayward BE, Garner A, Parmar R, Griffith E, Ali M, Semple
C, Aicardi J, Babul-Hirji R, Baumann C, Baxter P, Bertini E, Chandler KE,
Chitayat D, Cau D, Déry C, Fazzi E, Goizet C, King MD, Klepper J, Lacombe D,
Lanzi G, Lyall H, Martínez-Frías ML, Mathieu M, McKeown C, Monier A, Oade Y,
Quarrell OW, Rittey CD, Rogers RC, Sanchis A, Stephenson JB, Tacke U, Till M,
Tolmie JL, Tomlin P, Voit T, Weschke B, Woods CG, Lebon P, Bonthron DT, Ponting
CP, Jackson AP.

Author information:
(1)Leeds Institute of Molecular Medicine, University of Leeds, St. James’s
University Hospital, Leeds, LS9 7TF, UK.

Comment in
Nat Genet. 2006 Aug;38(8):866-7.

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 neurological disease and suggest an unanticipated relationship between
ribonuclease H2 and the antiviral immune response that warrants further
investigation.

DOI: 10.1038/ng1842
PMID: 16845400 [Indexed for MEDLINE]

Auteurs Bordeaux Neurocampus