Aicardi-Goutieres syndrome: From patients to genes and beyond

Clinical Genetics

Volumn 81, Issue 5, 2012, Pages 413-420

  Chahwan, C ^a   Chahwan, R ^b  

^a UNIVERSITY OF TORONTO   (Canada)

^b ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

Aicardi; Autoimmunity; Encephalopathy; Gouti res syndrome; Interferon; Leukodystrophy; Lupus; Lymphocytosis; Microcephaly; Neurological disorders; RNAseH2; SAMHD1; TREX1

Indexed keywords

ALPHA INTERFERON; AZATHIOPRINE; PREDNISONE; PROTEIN; SAMHD1 PROTEIN; TREX1 PROTEIN; UNCLASSIFIED DRUG;

ADAPTIVE IMMUNITY; AICARDI GOUTIERES SYNDROME; AUTOIMMUNITY; BRAIN DISEASE; CEREBROSPINAL FLUID; GENE MUTATION; GENETIC PREDISPOSITION; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS INFECTION; INNATE IMMUNITY; LYMPHOCYTOSIS; NUCLEIC ACID METABOLISM; PRIORITY JOURNAL; REVIEW; SYSTEMIC LUPUS ERYTHEMATOSUS; VASCULAR DISEASE;

ANIMALS; AUTOIMMUNE DISEASES; AUTOIMMUNE DISEASES OF THE NERVOUS SYSTEM; BRAIN DISEASES; HUMANS; METABOLIC DISEASES; NERVOUS SYSTEM MALFORMATIONS; VASCULAR DISEASES;

HUMAN IMMUNODEFICIENCY VIRUS;

EID: 84859585345     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01825.x     Document Type: Review

References (73)

1. Aicardi J, Goutieres F. A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann Neurol 1984: 15: 49-54.
2. Baraitser M, Brett EM, Piesowicz AT. Microcephaly and intracranial calcification in two brothers. J Med Genet 1983: 20: 210-212.
3. Jervis GA. Microcephaly with extensive calcium deposits and demyelination. J Neuropathol Exp Neurol 1954: 13: 318-329.
4. Rice G, Patrick T, Parmar R et al. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet 2007: 81: 713-725.
5. Lebon P, Ponsot G, Aicardi J, Goutieres F, Arthuis M. Early intrathecal synthesis of interferon in herpes encephalitis. Biomedicine 1979: 31: 267-271.
6. Lebon P, Lenoir GR, Fischer A, Lagrue A. Synthesis of intrathecal interferon in systemic lupus erythematosus with neurological complications. Br Med J (Clin Res Ed) 1983: 287: 1165-1167.
7. Lebon P, Badoual J, Ponsot G, Goutieres F, Hemeury-Cukier F, Aicardi J. Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy. J Neurol Sci 1988: 84: 201-208.
8. Desanges C, Lebon P, Bauman C et al. Elevated interferon-alpha in fetal blood in the prenatal diagnosis of Aicardi-Goutieres syndrome. Fetal Diagn Ther 2006: 21: 153-155.
9. Lebon P, Meritet JF, Krivine A, Rozenberg F. Interferon and Aicardi-Goutieres syndrome. Eur J Paediatr Neurol 2002: 6 (Suppl. A): A47-A53; discussion A55-A48, A77-A86.
10. Barth PG. The neuropathology of Aicardi-Goutieres syndrome. Eur J Paediatr Neurol 2002: 6 (Suppl. A): A27-A31; discussion A37-A29, A77-A86.
11. Orcesi S, La Piana R, Fazzi E. Aicardi-Goutieres syndrome. Br Med Bull 2009: 89: 183-201.
12. Pulliero A, Fazzi E, Cartiglia C et al. The Aicardi-Goutières syndrome. Molecular and clinical features of RNAse deficiency and microRNA overload. Mutat Res 2011: 717: 99-108.
13. Rajab A, Aldinger KA, El-Shirbini HA, Dobyns WB, Ross ME. Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2. Am J Med Genet A 2009: 149A: 129-137.
14. Stephenson JB. Aicardi-Goutieres syndrome (AGS). Eur J Paediatr Neurol 2008: 12: 355-358.
15. Kothare SV, Pungavkar SA, Patkar DP, Sainani NI, Naik MH, Gadani S. Regression of white matter hypodensities with age in Aicardi-Goutieres syndrome: a case report. Childs Nerv Syst 2006: 22: 1503-1506.
16. Goutieres F. Aicardi-Goutieres syndrome. Brain Dev 2005: 27: 201-206.
17. Aicardi J. Aicardi-Goutieres syndrome: special type early-onset encephalopathy. Eur J Paediatr Neurol 2002: 6 (Suppl. A): A1-A7; discussion A23-A25, A77-A86.
18. Izzotti A, Longobardi M, Cartiglia C et al. Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome. J Child Neurol 2011 (in press).
19. Crow YJ, Black DN, Ali M et al. Cree encephalitis is allelic with Aicardi-Goutieres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism. J Med Genet 2003: 40: 183-187.
20. Lee-Kirsch MA, Gong M, Chowdhury D et al. Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat Genet 2007: 39: 1065-1067.
21. Blau N, Bonafe L, Krageloh-Mann I et al. Cerebrospinal fluid pterins and folates in Aicardi-Goutieres syndrome: a new phenotype. Neurology 2003: 61: 642-647.
22. Dale RC, Brilot F. Biomarkers of inflammatory and auto-immune central nervous system disorders. Curr Opin Pediatr 2010: 22: 718-725.
23. Izzotti A, Pulliero A, Orcesi S et al. Interferon-related transcriptome alterations in the cerebrospinal fluid cells of Aicardi-Goutieres patients. Brain Pathol 2009: 19: 650-660.
24. Goutieres F, Aicardi J, Barth PG, Lebon P. Aicardi-Goutieres syndrome: an update and results of interferon-alpha studies. Ann Neurol 1998: 44: 900-907.
25. Crow YJ, Hayward BE, Parmar R et al. Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus. Nat Genet 2006: 38: 917-920.
26. Crow YJ, Leitch A, Hayward BE et al. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection. Nat Genet 2006: 38: 910-916.
27. Crow YJ, Rehwinkel J. Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. Hum Mol Genet 2009: 18: R130-R136.
28. Stetson DB, Ko JS, Heidmann T, Medzhitov R. Trex1 prevents cell-intrinsic initiation of autoimmunity. Cell 2008: 134: 587-598.
29. Yang Y-G, Lindahl T, Barnes DE. Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease. Cell 2007: 131: 873-886.
30. Rice G, Newman WG, Dean J et al. Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. Am J Hum Genet 2007: 80: 811-815.
31. Aravind L, Koonin EV. The HD domain defines a new superfamily of metal-dependent phosphohydrolases. Trends Biochem Sci 1998: 23: 469-472.
32. Rice GI, Bond J, Asipu A et al. Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet 2009: 41: 829-832.
33. Ramantani G, Kohlhase J, Hertzberg C et al. Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutieres syndrome. Arthritis Rheum 2010: 62: 1469-1477.
34. Lee-Kirsch MA, Gong M, Chowdhury D et al. Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat Genet 2007: 39: 1065-1067.
35. Lee-Kirsch MA, Chowdhury D, Harvey S et al. A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. J Mol Med (Berl) 2007: 85: 531-537.
36. Lee-Kirsch MA, Gong M, Schulz H et al. Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p. Am J Hum Genet 2006: 79: 731-737.
37. Ravenscroft JC, Suri M, Rice GI, Szynkiewicz M, Crow YJ. Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus. Am J Med Genet A 2011: 155A: 235-237.
38. Abdel-Salam GMH, El-Kamah GY, Rice GI et al. Chilblains as a diagnostic sign of Aicardi-Goutières syndrome. Neuropediatrics 2010: 41: 18-23.
39. Haaxma CA, Crow YJ, van Steensel MA et al. A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutieres syndrome. Am J Med Genet A 2010: 152A: 2612-2617.
40. Ramantani G, Hausler M, Niggemann P et al. Aicardi-Goutieres syndrome and systemic lupus erythematosus (SLE) in a 12-year-old boy with SAMHD1 mutations. J Child Neurol 2011: 26: 1425-1428.
41. Lee-Kirsch MA. Nucleic acid metabolism and systemic autoimmunity revisited. Arthritis Rheum 2010: 62: 1208-1212.
42. West AP, Shadel GS, Ghosh S. Mitochondria in innate immune responses. Nat Rev Immunol 2011: 11: 389-402.
43. Leshinsky-Silver E, Malinger G, Ben-Sira L et al. A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutieres syndrome associated with mtDNA deletions. Eur J Hum Genet 2011: 19: 287-292.
44. Pulliero A, Fazzi E, Cartiglia C et al. The Aicardi-Goutieres syndrome. Molecular and clinical features of RNAse deficiency and microRNA overload. Mutat Res 2011: 717: 99-108.
45. Richards A, van den Maagdenberg AM, Jen JC et al. C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genet 2007: 39: 1068-1070.
46. Xin B, Jones S, Puffenberger EG et al. Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke. Proc Natl Acad Sci U S A 2011: 108: 5372-5377.
47. du Moulin M, Nurnberg P, Crow YJ, Rutsch F. Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations. Proc Natl Acad Sci U S A 2011: 108: E232.
48. Dale RC, Gornall H, Singh-Grewal D, Alcausin M, Rice GI, Crow YJ. Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures. Am J Med Genet A 2010: 152A: 938-942.
49. Huleihel M, Golan H, Hallak M. Intrauterine infection/inflammation during pregnancy and offspring brain damages: possible mechanisms involved. Reprod Biol Endocrinol 2004: 2: 17.
50. Yuan TM, Sun Y, Zhan CY, Yu HM. Intrauterine infection/inflammation and perinatal brain damage: role of glial cells and Toll-like receptor signaling. J Neuroimmunol 2010: 229: 16-25.
51. Bourdeau V, Baudry D, Ferbeyre G. PML links aberrant cytokine signaling and oncogenic stress to cellular senescence. Front Biosci 2009: 14: 475-485.
52. Moiseeva O, Mallette FA, Mukhopadhyay UK, Moores A, Ferbeyre G. DNA damage signaling and p53-dependent senescence after prolonged beta-interferon stimulation. Mol Biol Cell 2006: 17: 1583-1592.
53. Stubgen JP. Interferon alpha and neuromuscular disorders. J Neuroimmunol 2009: 207: 3-17.
54. Sas AR, Bimonte-Nelson H, Smothers CT, Woodward J, Tyor WR. Interferon-alpha causes neuronal dysfunction in encephalitis. J Neurosci 2009: 29: 3948-3955.
55. Sas AR, Bimonte-Nelson HA, Tyor WR. Cognitive dysfunction in HIV encephalitic SCID mice correlates with levels of interferon-alpha in the brain. AIDS 2007: 21: 2151-2159.
56. Krivine A, Force G, Servan J et al. Measuring HIV-1 RNA and interferon-alpha in the cerebrospinal fluid of AIDS patients: insights into the pathogenesis of AIDS dementia complex. J Neurovirol 1999: 5: 500-506.
57. Rho MB, Wesselingh S, Glass JD et al. A potential role for interferon-alpha in the pathogenesis of HIV-associated dementia. Brain Behav Immun 1995: 9: 366-377.
58. Yang YG, Lindahl T, Barnes DE. Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease. Cell 2007: 131: 873-886.
59. Leavy O. Antiviral immunity: SAMHD1 - stopping HIV in its tracks. Nat Rev Immunol 2011: 11: 440.
60. Laguette N, Sobhian B, Casartelli N et al. SAMHD1 is the dendritic- and myeloid-cell-specific HIV-1 restriction factor counteracted by Vpx. Nature 2011: 474: 654-657.
61. Hrecka K, Hao C, Gierszewska M et al. Vpx relieves inhibition of HIV-1 infection of macrophages mediated by the SAMHD1 protein. Nature 2011: 474: 658-661.
62. Yan N, Regalado-Magdos AD, Stiggelbout B, Lee-Kirsch MA, Lieberman J. The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1. Nat Immunol 2010: 11: 1005-1013.
63. Serra M, Forcales SV, Pereira-Lopes S, Lloberas J, Celada A. Characterization of Trex1 induction by IFN-gamma in murine macrophages. J Immunol 2011: 186: 2299-2308.
64. Bubeck D, Reijns MAM, Graham SC, Astell KR, Jones EY, Jackson AP. PCNA directs type 2 RNase H activity on DNA replication and repair substrates. Nucleic Acids Res 2011: 39: 3652-3666.
65. Jazayeri A, Balestrini A, Garner E, Haber JE, Costanzo V. Mre11-Rad50-Nbs1-dependent processing of DNA breaks generates oligonucleotides that stimulate ATM activity. EMBO J 2008: 27: 1953-1962.
66. Alarcon-Riquelme ME. Nucleic acid by-products and chronic inflammation. Nat Genet 2006: 38: 866-867.
67. Pisetsky DS, Grammer AC, Ning TC, Lipsky PE. Are autoantibodies the targets of B-cell-directed therapy? Nat Rev Rheumatol 2011: 7: 551-556.
68. Lindahl T, Barnes DE, Yang YG, Robins P. Biochemical properties of mammalian TREX1 and its association with DNA replication and inherited inflammatory disease. Biochem Soc Trans 2009: 37: 535-538.
69. Reijns MA, Bubeck D, Gibson LC et al. The structure of the human RNase H2 complex defines key interaction interfaces relevant to enzyme function and human disease. J Biol Chem 2011: 286: 10530-10539.
70. Brooks PJ, Cheng TF, Cooper L. Do all of the neurologic diseases in patients with DNA repair gene mutations result from the accumulation of DNA damage? DNA Repair 2008: 7: 834-848.
71. Ramesh V, Bernardi B, Stafa A et al. Intracerebral large artery disease in Aicardi-Goutieres syndrome implicates SAMHD1 in vascular homeostasis. Dev Med Child Neurol 2010: 52: 725-732.
72. Aicardi J, Crow YJ, Stephenson JBP. Aicardi-Goutieres syndrome. In: Pagon RA, Bird TD, Dolan CR, eds. Gene reviews. Seattle, WA: University of Washington, 19932005.
73. Namjou B, Kothari PH, Kelly JA et al. Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort. Genes Immun 2011: 12: 270-279.