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

@article{Crow2006MutationsIG,
  title={Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Gouti{\`e}res syndrome and mimic congenital viral brain infection},
  author={Yanick J. Crow and Andrea Leitch and Bruce E. Hayward and Anna Garner and Rekha Parmar and Elen Griffith and Manir Ali and Colin A. Semple and J. P. Aicardi and Riyana Babul‐Hirji and Clarisse Baumann and Peter Baxter and Enrico Silvio Bertini and Kate E. Chandler and David Chitayat and Daniel Cau and Catherine D{\'e}ry and Elisa Fazzi and Cyril Goizet and Mary Dolores King and Joerg Klepper and Didier Lacombe and Giovanni Lanzi and H. Lyall and M L Martinez-frias and Mich{\'e}le Mathieu and Carole Mckeown and Anne Monier and Yvette Oade and Oliver W J Quarrell and Christopher D. C. Rittey and Roger Curtis Rogers and A. Sanch{\'i}s and John B. P. Stephenson and Uta Tacke and Marianne Till and J. Tolmie and Pamela I Tomlin and Thomas Voit and Bernhard Weschke and C. Geoffrey Woods and Pierre Lebon and David T. Bonthron and Chris Paul Ponting and Andrew P. Jackson},
  journal={Nature Genetics},
  year={2006},
  volume={38},
  pages={910-916}
}
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… 
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Mutations in SAMHD1 are described as the cause of Aicardi-Goutières syndrome at the AGS5 locus and data is presented to show that SAM HD1 may act as a negative regulator of the cell-intrinsic antiviral response.
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TLDR
It is found that TREX1-deficiency resulted in the intracellular accumulation of single stranded DNA resulting in chronic activation of the DNA damage response network, even in cells from Trex1-mutated AGS patients.
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Aicardi-Goutières syndrome is caused by IFIH1 mutations.
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TLDR
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TLDR
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There are two types of interferon (IFN), as you know already, and the interferon which we are interested in for this syndrome is type 1 IFN, specifically the alpha type. Interferons are proteins
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