Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome

British Journal of Dermatology

Volumn 167, Issue 1, 2012, Pages 212-214

  Tungler V ^a   Silver, R M ^b   Walkenhorst, H ^c   Gunther C ^a   Lee Kirsch, Min Ae ^a  

^a DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^b MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^c Krankenhaus Bethanien   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

HYDROXYCHLOROQUINE; NIFEDIPINE; PREDNISONE;

ADOLESCENT; AICARDI GOUTIERES SYNDROME; BLOOD CELL COUNT; CASE REPORT; CHILBAIN LUPUS; CHILD; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LETTER; LUPUS ERYTHEMATOSUS; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RASH; SKIN DEFECT; STOMATITIS; URINALYSIS;

ADOLESCENT; ASPARTIC ACID; AUTOIMMUNE DISEASES OF THE NERVOUS SYSTEM; CHILBLAINS; EXODEOXYRIBONUCLEASES; HETEROZYGOTE; HUMANS; LUPUS ERYTHEMATOSUS, CUTANEOUS; MALE; MUTATION; NERVOUS SYSTEM MALFORMATIONS; PHOSPHOPROTEINS; SYNDROME;

EID: 84863326630     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2012.10813.x     Document Type: Letter

References (12)

1. 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; 79:731-7. (Pubitemid 44452751)
2. Rice G, Newman WG, Dean J et al. Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutières syndrome. Am J Hum Genet 2007; 80:811-15. (Pubitemid 46564418)
3. 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 2007; 85:531-7. (Pubitemid 46701663)
4. Ravenscroft JC, Suri M, Rice GI et al. Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus. Am J Med Genet A 2011; 155A:235-7.
5. Rice G, Patrick T, Parmar R et al. Clinical and molecular phenotype of Aicardi-Goutières syndrome. Am J Hum Genet 2007; 81:713-25.
6. Ramantani G, Kohlhase J, Hertzberg C et al. Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. Arthritis Rheum 2010; 62:1469-77.
7. de Silva U, Choudhury S, Bailey SL et al. The crystal structure of TREX1 explains the 3′ nucleotide specificity and reveals a polyproline II helix for protein partnering. J Biol Chem 2007; 282:10537-43.
8. Haaxma CA, Crow YJ, van Steensel MA et al. A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome. Am J Med Genet A 2010; 152A:2612-17.
9. Fye JM, Orebaugh CD, Coffin SR et al. Dominant mutation of the TREX1 exonuclease gene in lupus and Aicardi-Goutières syndrome. J Biol Chem 2011; 286:32373-82.
10. Yang YG, Lindahl T, Barnes DE. Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease. Cell 2007; 131:873-86. (Pubitemid 350138088)
11. Stetson DB, Ko JS, Heidmann T et al. Trex1 prevents cell-intrinsic initiation of autoimmunity. Cell 2008; 134:587-98.
12. 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; 39:1065-7. (Pubitemid 47340647)