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

被引:31
作者
Tuengler, V. [1 ]
Silver, R. M. [2 ]
Walkenhorst, H. [3 ]
Guenther, C. [4 ]
Lee-Kirsch, M. A. [1 ]
机构
[1] Tech Univ Dresden, Childrens Hosp, D-01307 Dresden, Germany
[2] Med Univ S Carolina, Dept Med, Div Rheumatol & Immunol, Charleston, SC 29425 USA
[3] Evangel Krankenhaus Bethanien, Iserlohn, Germany
[4] Tech Univ Dresden, Dept Dermatol, D-01307 Dresden, Germany
关键词
ERYTHEMATOSUS;
D O I
10.1111/j.1365-2133.2012.10813.x
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
引用
收藏
页码:212 / 214
页数:3
相关论文
共 12 条
[1]   The crystal structure of TREX1 explains the 3′ nucleotide specificity and reveals a polyproline II helix for protein partnering [J].
de Silva, Udesh ;
Choudhury, Sumana ;
Bailey, Suzanna L. ;
Harvey, Scott ;
Perrino, Fred W. ;
Hollis, Thomas .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2007, 282 (14) :10537-10543
[2]   Dominant Mutations of the TREX1 Exonuclease Gene in Lupus and Aicardi-Goutieres Syndrome [J].
Fye, Jason M. ;
Orebaugh, Clinton D. ;
Coffin, Stephanie R. ;
Hollis, Thomas ;
Perrino, Fred W. .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2011, 286 (37) :32373-32382
[3]   A de novo p.Asp18Asn Mutation in TREX1 in a Patient With Aicardi-Goutieres Syndrome [J].
Haaxma, Charlotte A. ;
Crow, Yanick J. ;
van Steensel, Maurice A. M. ;
Lammens, Martin M. Y. ;
Rice, Gillian I. ;
Verbeek, Marcel M. ;
Willemsen, Michel A. A. P. .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (10) :2612-2617
[4]  
Lee-Kirsch MA, 2007, NAT GENET, V39, P1065
[5]   A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus [J].
Lee-Kirsch, Min Ae ;
Chowdhury, Dipanjan ;
Harvey, Scott ;
Gong, Maoliang ;
Senenko, Lydia ;
Engel, Kerstin ;
Pfeiffer, Christiane ;
Hollis, Thomas ;
Gahr, Manfred ;
Perrino, Fred W. ;
Lieberman, Judy ;
Hubner, Norbert .
JOURNAL OF MOLECULAR MEDICINE-JMM, 2007, 85 (05) :531-537
[6]   Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p [J].
Lee-Kirsch, Min Ae ;
Gong, Maolian ;
Schulz, Herbert ;
Rueschendorf, Franz ;
Stein, Annette ;
Pfeiffer, Christiane ;
Ballarini, Annalisa ;
Gahr, Manfred ;
Hubner, Norbert ;
Linne, Maja .
AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 79 (04) :731-737
[7]   Expanding the Phenotypic Spectrum of Lupus Erythematosus in Aicardi-Goutieres Syndrome [J].
Ramantani, Georgia ;
Kohlhase, Juergen ;
Hertzberg, Christoph ;
Innes, A. Micheil ;
Engel, Kerstin ;
Hunger, Susan ;
Borozdin, Wiktor ;
Mah, Jean K. ;
Ungerath, Kristina ;
Walkenhorst, Hartmut ;
Richardt, Hans-Helmut ;
Buckard, Johannes ;
Bevot, Andrea ;
Siegel, Corinna ;
von Stuelpnagel, Celina ;
Ikonomidou, Chrysanthy ;
Thomas, Kara ;
Proud, Virginia ;
Niemann, Frank ;
Wieczorek, Dagmar ;
Haeusler, Martin ;
Niggemann, Pascal ;
Baltaci, Volkan ;
Conrad, Karsten ;
Lebon, Pierre ;
Lee-Kirsch, Min Ae .
ARTHRITIS AND RHEUMATISM, 2010, 62 (05) :1469-1477
[8]   Autosomal Dominant Inheritance of a Heterozygous Mutation in SAMHD1 Causing Familial Chilblain Lupus [J].
Ravenscroft, Jane C. ;
Suri, Mohnish ;
Rice, Gillian I. ;
Szynkiewicz, Marcin ;
Crow, Yanick J. .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (01) :235-237
[9]   Clinical and molecular phenotype of Aicardi-Goutieres syndrome [J].
Rice, Gillian ;
Patrick, Teresa ;
Parmar, Rekha ;
Taylor, Claire F. ;
Aeby, Alec ;
Aicardi, Jean ;
Artuch, Rafael ;
Montalto, Simon Attard ;
Bacino, Carlos A. ;
Barroso, Bruno ;
Baxter, Peter ;
Benko, Willam S. ;
Bergmann, Carsten ;
Bertini, Enrico ;
Biancheri, Roberta ;
Blair, Edward M. ;
Blau, Nenad ;
Bonthron, David T. ;
Briggs, Tracy ;
Brueton, Louise A. ;
Brunner, Han G. ;
Burke, Christopher J. ;
Carr, Ian M. ;
Carvalho, Daniel R. ;
Chandler, Kate E. ;
Christen, Hans-Juergen ;
Corry, Peter C. ;
Cowan, Frances M. ;
Cox, Helen ;
D'Arrigo, Stefano ;
Dean, John ;
De laet, Corinne ;
De Praeter, Claudine ;
Dery, Catherine ;
Ferrie, Colin D. ;
Flintoff, Kim ;
Frints, Suzanna G. M. ;
Garcia-Cazorla, Angels ;
Gener, Blanca ;
Goizet, Cyril ;
Goutieres, Francoise ;
Green, Andrew J. ;
Gueet, Agnes ;
Hamel, Ben C. J. ;
Hayward, Bruce E. ;
Heiberg, Arvid ;
Hennekam, Raoul C. ;
Husson, Marie ;
Jackson, Andrew P. ;
Jayatunga, Rasieka .
AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 81 (04) :713-725
[10]   Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome [J].
Rice, Gillian ;
Newman, William G. ;
Dean, John ;
Patrick, Teresa ;
Parmar, Rekha ;
Flintoff, Kim ;
Robins, Peter ;
Harvey, Scott ;
Hollis, Thomas ;
O'Hara, Ann ;
Herrick, Ariane L. ;
Bowden, Andrew P. ;
Perrino, Fred W. ;
Lindahl, Tomas ;
Barnes, Deborah E. ;
Crow, Yanick J. .
AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 80 (04) :811-815