Clinical and molecular phenotype of Aicardi-Goutières syndrome

American Journal of Human Genetics

Volumn 81, Issue 4, 2007, Pages 713-725

  Rice, Gillian ^a   Patrick, Teresa ^b   Parmar, Rekha ^a   Taylor, Claire F ^b,c   Aeby, Alec ^e   Aicardi, Jean ^k   Artuch, Rafael ^k   Montalto, Simon Attard ^m   Bacino, Carlos A ⁿ   Barroso, Bruno ^o   Baxter, Peter ^p   Benko, Willam S ^q   Bergmann, Carsten ^r   Bertini, Enrico ^s   Biancheri, Roberta ^u   Blair, Edward M ^v   Blau, Nenad ^w   Bonthron, David T ^a   Briggs, Tracy ^u   Brueton, Louise A ^x   Brunner, Han G ^z   Burke, Christopher J ^aa   Carr, Ian M ^a   Carvalho, Daniel R ^ac   Chandler, Kate E ^ad   Christen, Hans Jürgen ^af   Corry, Peter C ^ag   Cowan, Frances M ^aj   Cox, Helen ^x   D'Arrigo, Stefano ^m   Dean, John ^ah   De Laet, Corinne ^f   De Praeter, Claudine ^ai   Déry, Catherine ^an   Ferrie, Colin D ^d   Flintoff, Kim ^b   Frints, Suzanna G M ^aj   Garcia Cazorla, Angels ^l   Gener, Blanca ^an   Goizet, Cyril ^ao   Goutières, Françoise ^k   Green, Andrew J ^aq   Guët, Agnès ^g   Hamel, Ben C J ^z   Hayward, Bruce E ^a   Heiberg, Arvid ^aq   Hennekam, Raoul C ^as   Husson, Marie ^ap   Jackson, Andrew P ^au   Jayatunga, Rasieka ^y   Jiang, Yong Hui ⁿ   Kant, Sarina G ^av   Kao, Amy ^aw   King, Mary D ^aq   Kingston, Helen M ^ae   Klepper, Joerg ^ax   Van Der Knaap, Marjo S ^at   Kornberg, Andrew J ^ay   Kotzot, Dieter ^az,bb   Kratzer, Wilfried ^bb   Lacombe, Didier ^ao   Lagae, Lieven ^bc   Landrieu, Pierre Georges ^h   Lanzi, Giovanni ^bd   Leitch, Andrea ^au   Lim, Ming J ^am   Livingston, John H ^d   Lourenco, Charles M ^be   Lyall, E G Hermione ^aj   Lynch, Sally A ^aq   Lyons, Michael J ^bf   Marom, Daphna ^bg   McClure, John P ^bh   McWilliam, Robert ^bh   Melancon, Serge B ^bj   Mewasingh, Leena D ^bk   Moutard, Marie Laure ^g   Nischal, Ken K ^ak   Østergaard, John R ^bl   Prendiville, Julie ^bm   Rasmussen, Magnhild ^ar   Rogers, R Curtis ^bf   Roland, Dominique ^bn   Rosser, Elisabeth M ^al   Rostasy, Kevin ^ba   Roubertie, Agathe ^bo   Sanchis, Amparo ^bp   Schiffmann, Raphael ^bq   Scholl Bürgi, Sabine ^ba   Seal, Sunita ^ag   Shalev, Stavit A ^bq   Corcoles, C Sierra ^br   Sinha, Gyan P ^bs   Soler, Doriette ^ah   Spiegel, Ronen ^q   Stephenson, John B P ^bh   Tacke, Uta ^bt   Tiong, Yang Tan ^bu   Till, Marianne ^bv   Tolmie, John L ^bi   Tomlin, Pam ^bw   Vagnarelli, Federica ^bx   Valente, Enza Maria ^t   Van Coster, Rudy N A ^ai   Van Der Aa, Nathalie ^by   Vanderver, Adeline ^bz   Vles, Johannes S H ^aj   Voit, Thomas ⁱ   Wassmer, Evangeline ^z   Weschke, Bernhard ^ca   Whiteford, Margo L ^bi   Willemsen, Michel A A ^aa   Zankl, Andreas ^ab   Zuberi, Sameer M ^bh   Orcesi, Simona ^bd   Fazzi, Elisa ^bd   Lebon, Pierre ^j   Crow, Yanick J ^a,b,ag   more..

^a UNIVERSITY OF LEEDS   (United Kingdom)

^b ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^c IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^d LEEDS GENERAL INFIRMARY   (United Kingdom)

^e ERASME HOSPITAL   (Belgium)

^f Children's Hospital Queen Fabiola   (Belgium)

^g SERVICE DE DERMATOLOGIE   (France)

^h BICÊTRE HOSPITAL   (France)

ⁱ PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^j Hôpital Cochin St Vincent de Paul ^*  (France)

^k CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^l ST LUKE S HOSPITAL   (Malta)

^m BAYLOR COLLEGE OF MEDICINE   (United States)

ⁿ CENTRE HOSPITALIER DE PAU   (France)

^o SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^p NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^q RWTH AACHEN UNIVERSITY   (Germany)

^r BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^s CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^t G GASLINI INSTITUTE   (Italy)

^u CHURCHILL HOSPITAL   (United Kingdom)

^v UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^w BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^x SANDWELL AND WEST BIRMINGHAM HOSPITALS NHS TRUST   (United Kingdom)

^y BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^z RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^aa ROYAL CHILDREN'S HOSPITAL   (Australia)

^ab SÃO PAULO STATE UNIVERSITY UNESP   (Brazil)

^ac ST MARY S HOSPITAL   (United Kingdom)

^ad KINDERKRANKENHAUS AUF DER BULT   (Germany)

^ae BRADFORD TEACHING HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^af DEPARTMENT OF NEUROSURGERY   (Italy)

^ag Grampian Clinical Genetics Centre   (United Kingdom)

^ah GHENT UNIVERSITY HOSPITAL   (Belgium)

^ai MAASTRICHT UNIVERSITY   (Netherlands)

^aj GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^ak EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^al UNIVERSITÉ LAVAL   (Canada)

^am HOSPITAL DE CRUCES   (Spain)

^an HÔPITAL PELLEGRIN   (France)

^ao Our Lady's Hospital   (Ireland)

^ap CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^aq OSLO UNIVERSITY HOSPITAL   (Norway)

^ar ACADEMIC MEDICAL CENTER   (Netherlands)

^as VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^at WESTERN GENERAL HOSPITAL   (United Kingdom)

^au LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^av OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^aw KLINIKUM ASCHAFFENBURG   (Germany)

^ax ROYAL CHILDREN'S HOSPITAL   (Australia)

^ay INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^az Department of Pediatrics   (Austria)

^ba Klinikum Klinik für Kinder und Jugendliche   (Germany)

^bb UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^bc C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^bd UNIVERSITY OF SÃO PAULO   (Brazil)

^be GREENWOOD GENETIC CENTER   (United States)

^bf RABIN MEDICAL CENTER   (Israel)

^bg CROSSHOUSE HOSPITAL   (United Kingdom)

^bh ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^bi MONTREAL CHILDREN S HOSPITAL   (Canada)

^bj UNIVERSITY HOSPITALS OF LEICESTER NHS TRUST   (United Kingdom)

^bk AARHUS UNIVERSITY HOSPITAL   (Denmark)

^bl BC CHILDREN S HOSPITAL   (Canada)

^bm INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

^bn GUI DE CHAULIAC HOSPITAL   (France)

^bo HOSPITAL UNIVERSITARIO DR PESET   (Spain)

^bp HAEMEK MEDICAL CENTER   (Israel)

^bq TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^br Neuropediatrics Unit   (Spain)

^bs MANOR HOSPITAL   (United Kingdom)

^bt UNIVERSITY OF FREIBURG   (Germany)

^bu Genetic Health Services Victoria   (Australia)

^bv HÔPITAL DEBROUSSE   (France)

^bw LANCASHIRE TEACHING HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^bx S MARIA NUOVA HOSPITAL   (Italy)

^by Center for Medical Genetics   (Belgium)

^bz CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^ca HUMBOLDT UNIVERSITY   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; AICARDI GOUTIERES SYNDROME; ARTICLE; CHILD; CONGENITAL INFECTION; CONTROLLED STUDY; GENE FREQUENCY; GENE IDENTIFICATION; GENETIC SCREENING; GENOTYPE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MORTALITY; MUTATOR GENE; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; RNASEH2A GENE; RNASEH2B GENE; RNASEH2C GENE; TREX1 GENE;

EID: 35349019691     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/521373     Document Type: Article

References (34)

1. GenBank, http://www.ncbi.nlm.nih.gov/Genbank/ (for TREX1 protein [transcript AAK07616 and nucleotide sequence NM_033627, with the A at 2986 as the first base of the initiating ATG codon], RNASEH2A protein [transcript AAH11748.1 and nucleotide sequence NM_006397.2], RNASEH2B protein [transcript AAH36744.1 and nucleotide sequence NM_024570.1], and RNASEH2C protein [accession number AAH23588.1 and nucleotide sequence NM_032193.3])
2. International Aicardi-Goutières Syndrome Association,http://www. aicardi-goutieres.org/
3. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/ Omim/ (for CSF lymphocytosis, TREX1, RNASEH2A, RNASEH2B, RNASEH2C, Alexander disease, vanishing white-matter disease, SLE, and familial chilblain lupus)
4. Aicardi J, Goutières F (1984) A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann Neurol 15:49-54
5. Lebon P, Badoual J, Ponsot G, Goutieres F, Hemeury-Cukier F, Aicardi J (1988) Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy. J Neurol Sci 84:201-208
6. Goutieres F, Aicardi J, Barth PG, Lebon P (1998) Aicardi-Goutières syndrome: an update and results of interferon-α studies. Ann Neurol 44:900-907
7. Lanzi G, Fazzi E, D'Arrigo S, Orcesi S, Maraucci I, Uggetti C, Bertini E, Lebon P (2005) The natural history of Aicardi-Goutieres syndrome: follow-up of 11 Italian patients. Neurology 64:1621-1624
8. McEntagart M, Kamel H, Lebon P, King MD (1998) Aicardi-Goutieres syndrome: an expanding phenotype. Neuropediatrics 29:163-167
9. Sanchis A, Cervero L, Bataller A, Tortajada JL, Huguet J, Crow YJ, Ali M, Higuet LJ, Martinez-Frias ML (2005) Genetic syndrome mimics congenital infection. J Pediatr 146:701-705
10. Crow YJ, Jackson AP, Roberts E, van Beusekom E, Barth P, Corry P, Ferrie CD, Hamel BCJ, Jayatunga R, Karbani G, et al (2000) Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21. Am J Hum Genet 67:213-221
11. Crow YJ, Black DN, Ali M, Bond J, Jackson AP, Lefson M, Michaud J, Roberts E, Stephenson JB,Woods CG, et al (2003) Cree encephalitis is allelic with Aicardi-Goutières syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism. J Med Genet 40:183-187
12. Ali M, Highet LJ, Lacombe D, Goizet C, King MD, Tacke U, van der Knaap MS, Lagae L, Rittey C, Brunner HG, et al (2006) A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21. J Med Genet 43:444-450
13. Crow YJ, Hayward BE, Parmar R, Robins P, Leitch A, Ali M, Black DN, van BokHoven H, Brunner HG, Hamel BC, et al (2006) Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus. Nat Genet 38:917-920
14. Crow YJ, Leitch A, Hayward BE, Garner A, Parmar R, Griffith E, Ali M, Semple C, Aicardi J, Babul-Hirji R, et al (2006) Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection. Nat Genet 38:910-916
15. Hoyeraal HM, Lamvik J, Moe PJ (1970) Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers. Acta Paediat Scand 59:185-191
16. Burn J, Wickramasinghe HT, Harding B, Baraitser M (1986) A syndrome with intracranial calcification and microcephaly in two sibs, resembling intrauterine infection. Clin Genet 30: 112-116
17. ReardonW, Hockey A, Silberstein P, Kendall B, Farag TI, Swash M, Stevenson R, Baraitser M (1994) Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease. Am J Med Genet 52:58-65
18. Knoblauch H, Tennstedt C, Brueck W, Hammer H, Vulliamy T, Dokal I, Lehmann R, Hanefeld F, Tinschert S (2003) Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome). Am J Med Genet A 120:261-265
19. Gardner RJ, Chow CW, Simpson I, Fink AM, Meagher SE, White SM (2005) Severe fetal brain dysgenesis with focal calcification. Prenat Diagn 25:362-364
20. Modlin JF, Grant E, Makar RS, Roberts DJ, Krishnamoorthy KS (2003) Case 25-2003: a newborn boy with petechiae and thrombocytopenia. N Engl J Med 349:691-700
21. Desanges C, Lebon P, Bauman C, Vuillard E, Garel C, Cordesse A, Oury JF, Crow Y, Luton D (2006) Elevated interferon-alpha in fetal blood in the prenatal diagnosis of Aicardi-Goutieres syndrome. Fetal Diagn Ther 21:153-155
22. Rice G, Newman WG, Dean J, Patrick T, Parmar R, Flintoff K, Robins P, Harvey S, Hollis T, O'Hara A, et al (2007) Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. Am J Hum Genet 80:811-815
23. de Silva U, Choudhury S, Bailey SL, Harvey S, Perrino FW, Hollis T (2007) The crystal structure of TREX1 explains the 3′ nucleotide specificity and reveals a polyproline ii helix for protein partnering. J Biol Chem 282:10537-10543
24. Lebon P, Meritet JF, Krivine A, Rozenberg F (2002) Interferon and Aicardi-Goutieres syndrome. Eur J Paediatr Neurol Suppl A 6:A47-A53
25. Blau N, Bonafe L, Krageloh-Mann I, Thony B, Kierat L, Hausler M, Ramaekers V (2003) Cerebrospinal fluid pterins and folates in Aicardi-Goutieres syndrome: a new phenotype. Neurology 61:642-647
26. Tolmie JL, Shillito P, Hughes-Benzie R, Stephenson JB (1995) The Aicardi-Goutieres syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis). J Med Genet 32:881-884
27. Samejima K, Earnshaw WC (2005) Trashing the genome: the role of nucleases during apoptosis. Nat Rev Mol Cell Biol 6:677-688
28. Walport MJ (2000) Lupus, DNase and defective dispersal of cellular debris. Nat Genet 25:135-136
29. Dale RC, Tang SP, Heckmatt JZ, Tatnall FM (2000) Familial systemic lupus erythematosus and congenital infection-like syndrome. Neuropediatrics 31:155-158
30. Aicardi J, Goutières F (2000) Systemic lupus erythematosus or Aicardi-Goutières syndrome? Neuropediatrics 31:113
31. Rasmussen M, Skullerud K, Bakke SJ, Lebon P, Jahnsen FL (2005) Cerebral thrombotic microangiopathy and antiphospholipid antibodies in Aicardi-Goutières syndrome - reports of two sisters. Neuropediatrics 36:40-44
32. De Laet C, Goyens P, Christophe C, Ferster A, Mascart F, Dan B (2005) Phenotypic overlap between infantile systemic lupus erythematosus and Aicardi-Goutieres syndrome. Neuropediatrics 36:399-402
33. Stetson DB, Medzhitov R (2006) Type I interferons in host defense. Immunity 25:373-381
34. Banchereau J, Pascual V (2006) Type I interferon in systemic lupus erythematosus and other autoimmune diseases. Immunity 25:383-392