Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus

被引：28
|
作者：
Abe, Junya
Izawa, Kazushi
Nishikomori, Ryuta [1 ]
Awaya, Tomonari
Kawai, Tomoki
Yasumi, Takahiro
Hiragi, Naoko [2 ]
Hiragi, Toru [2 ]
Ohshima, Yusei [3 ]
Heike, Toshio
机构：
[1] Kyoto Univ, Dept Pediat, Grad Sch Med, Sakyo Ku, Kyoto 6068507, Japan
[2] Tsuruga Municipal Hosp, Dept Pediat, Tsuruga, Fukui, Japan
[3] Univ Fukui, Dept Pediat, Fac Med Sci, Fukui 910, Japan
来源：
RHEUMATOLOGY | 2013年 / 52卷 / 02期
关键词：
ERYTHEMATOSUS;
D O I：
10.1093/rheumatology/kes181
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
[No abstract available]
引用
收藏
页码：406 / 408
页数：3
相关论文
共 8 条
  • [1] A de novo p.Asp18Asn Mutation in TREX1 in a Patient With Aicardi-Goutieres Syndrome
    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
  • [2] Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome
    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
  • [3] Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutieres syndrome
    Tuengler, V.
    Silver, R. M.
    Walkenhorst, H.
    Guenther, C.
    Lee-Kirsch, M. A.
    BRITISH JOURNAL OF DERMATOLOGY, 2012, 167 (01) : 212 - 214
  • [4] Familial chilblain lupus due to a novel mutation in TREX1 associated with Aicardi–Goutie’res syndrome
    Cuili Yi
    Qiyuan Li
    Jihong Xiao
    Pediatric Rheumatology, 18
  • [5] Familial chilblain lupus due to a novel mutation in TREX1 associated with Aicardi-Goutie'res syndrome
    Yi, Cuili
    Li, Qiyuan
    Xiao, Jihong
    PEDIATRIC RHEUMATOLOGY, 2020, 18 (01)
  • [6] Phenotypic variation in familial chilblain lupus (FCL) and Aicardi-Goutières syndrome (AGS) associated with TREX1 mutation in 4 family members
    James Glanville
    Saleem Taibjee
    Yanick Crow
    Penny Davis
    Clive Ryder
    Taunton Southwood
    Pediatric Rheumatology, 9 (Suppl 1)
  • [7] Clinical heterogeneity among a three-generation Japanese family with D18N TREX1 mutation for Aicardi-Goutières syndrome / familial chilblain lupus
    J Abe
    R Nishikomori
    K Izawa
    T Awaya
    T Kawai
    T Yasumi
    T Heike
    N Hiragi
    T Hiragi
    Pediatric Rheumatology, 9 (Suppl 1)
  • [8] The TREX1 Exonuclease R114H Mutation in Aicardi-Goutieres Syndrome and Lupus Reveals Dimeric Structure Requirements for DNA Degradation Activity
    Orebaugh, Clinton D.
    Fye, Jason M.
    Harvey, Scott
    Hollis, Thomas
    Perrino, Fred W.
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2011, 286 (46) : 40246 - 40254
1