A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome

American Journal of Medical Genetics, Part A

Volumn 152 A, Issue 10, 2010, Pages 2612-2617

  Haaxma, Charlotte A ^a   Crow, Yanick J ^b   Van Steensel, Maurice A M ^c   Lammens, Martin M Y ^a,d   Rice, Gillian I ^b   Verbeek, Marcel M ^a,d   Willemsen, Michèl A A P ^a  

^a RADBOUD UNIVERSITY   (Netherlands)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

^c MAASTRICHT UNIVERSITY   (Netherlands)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Aicardi Gouti res syndrome; Basal ganglia calcifications; Chilblains; IFN ; TREX1

Indexed keywords

ASPARAGINE; ASPARTIC ACID; AGS1 PROTEIN, HUMAN; DNA; EXODEOXYRIBONUCLEASE; PHOSPHOPROTEIN; PROTEIN; THREE PRIME REPAIR EXONUCLEASE 1;

ADOLESCENT; AICARDI GOUTIERES SYNDROME; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHILD; COMPUTER ASSISTED TOMOGRAPHY; EDEMA; ELECTROMYOGRAM; FEMALE; GENE; GENE MUTATION; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MYOPATHY; NERVE BIOPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PLEOCYTOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENCE RISK; SENSORIMOTOR NEUROPATHY; SKIN DISCOLORATION; SKIN LUPUS ERYTHEMATOSUS; TREX1 GENE; VASCULITIS; AMINO ACID SUBSTITUTION; BRAIN DISEASE; GENETICS; HETEROZYGOTE DETECTION; ISOLATION AND PURIFICATION; MUTATION; PATHOLOGY; SKELETAL MUSCLE;

ADOLESCENT; AMINO ACID SUBSTITUTION; ASPARAGINE; ASPARTIC ACID; BRAIN DISEASES; DNA; EXODEOXYRIBONUCLEASES; FEMALE; HETEROZYGOTE DETECTION; HUMANS; MUSCLE, SKELETAL; MUTATION; PHOSPHOPROTEINS; PROTEINS;

EID: 78349249767     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33620     Document Type: Article

References (9)

1. Barnerias C, Giurgea I, Hertz-Pannier L, Bahi-Buisson N, Boddaert N, Rustin P, Rotig A, Desguerre I, Munnich A, De Lonlay P. 2006. Respiratory chain deficiency in a female with Aicardi-Goutières syndrome. Dev Med Child Neurol 48: 227-230.
2. Blau N, Bonafé L, Krägeloh-Mann I, Thöny B, Kierat L, Häusler M, Ramaekers V. 2003. Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: A new phenotype. Neurology 61: 642-647.
3. Castro-Gago M, Gomez-Lado C, Eiris-Punal J. 2006. Respiratory chain deficiency in Aicardi-Goutières syndrome. Dev Med Child Neurol 48: 701.
4. Crow YJ, Livingston JH. 2008. Aicardi-Goutières syndrome: An important Mendelian mimic of congenital infection. Dev Med Child Neurol 50: 410-416.
5. Lee-Kirsch MA, Chowdhury D, Harvey S, Gong M, Senenko L, Engel K, Pfeiffer C, Hollis T, Gahr M, Perrino FW, Lieberman J, Hubner N. 2007a. A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. J Mol Med 85: 531-537.
6. Lee-Kirsch MA, Gong M, Chowdhury D, Senenko L, Engel K, Lee YA, de Silva U, Bailey SL, Witte T, Vyse TJ, Kere J, Pfeiffer C, Harvey S, Wong A, Koskenmies S, Hummel O, Rohde K, Schmidt RE, Dominiczak AF, Gahr M, Hollis T, Perrino FW, Lieberman J, Hubner N. 2007b. Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat Genet 39: 1065-1067.
7. Murr C, Fuith LC, Widner B, Wirleitner B, Baier-Bitterlich G, Fuchs D. 1999. Increased neopterin concentrations in patients with cancer: Indicator of oxidative stress? Anticancer Res 19: 1721-1728.
8. Rice G, Newman WG, Dean J, Patrick T, Parmar R, Flintoff K, Robins P, Harvey S, Hollis T, O'Hara A, Herrick AL, Bowden AP, Perrino FW, Lindahl T, Barnes DE, Crow YJ. 2007a. Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutières syndrome. Am J Hum Genet 80: 811-815.
9. Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean J, De Laet C, De Praeter C, Dery C, Ferrie CD, Flintoff K, Frints SG, Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BC, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EG, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, Sinha GP, Soler D, Spiegel R, Stephenson JB, Tacke U, Tan TY, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, Van Coster RN, Van der Aa N, Vanderver A, Vles JS, Voit T, Wassmer E, Weschke B, Whiteford ML, Willemsen MA, Zankl A, Zuberi SM, Orcesi S, Fazzi E, Lebon P, Crow YJ. 2007b. Clinical and molecular phenotype of Aicardi-Goutières syndrome. Am J Hum Genet 81: 713-725.