Novel mutation in the ATM gene in a Malian family with ataxia telangiectasia

被引:7
|
作者
Landoure, Guida [1 ,2 ]
Mochel, Fanny [3 ,4 ,5 ]
Meilleur, Katherine [2 ]
Ly, Madani [6 ]
Sangare, Modibo [2 ]
Bocoum, Nouhoum [7 ]
Bagayoko, Koumba [7 ]
Coulibaly, Thomas [1 ]
Sarr, Amadou M. [8 ]
Ba, Hamidou O. [9 ]
Coulibaly, Souleymane [10 ]
Guinto, Cheick O. [1 ]
Toure, Mahamadou [11 ]
Traore, Moussa [1 ]
Fischbeck, Kenneth H. [2 ]
机构
[1] Ctr Hosp Univ Point G, Serv Neurol, Bamako, Mali
[2] NINDS, Neurogenet Branch, NIH, Bethesda, MD 20892 USA
[3] Hop La Pitie Salpetriere, INSERM UMR S975, Brain & Spine Inst, Paris, France
[4] Hop La Pitie Salpetriere, AP HP, Dept Genet, Paris, France
[5] Univ Paris 06, Paris, France
[6] Ctr Hosp Univ Point G, Serv Hematooncol, Bamako, Mali
[7] Univ Bamako, Fac Med Pharm & Odontostomatol, Bamako, Mali
[8] Lab Anal Med BIOTECH, Bamako, Mali
[9] Ctr Hosp Univ Gabriel Toure, Serv Cardiol, Bamako, Mali
[10] Ctr Hosp Univ Point G, Psychiat Serv, Bamako, Mali
[11] Ctr Hosp Mere Enfant Luxembourg, Serv Radiol, Bamako, Mali
关键词
DISORDERS;
D O I
10.1007/s00415-012-6738-5
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:324 / 326
页数:3
相关论文
共 50 条
  • [31] Characterization of ATM gene mutations in 66 ataxia telangiectasia families
    Sandoval, N
    Platzer, M
    Rosenthal, A
    Dörk, T
    Bendix, R
    Skawran, B
    Stuhrmann, M
    Wegner, RD
    Sperling, K
    Banin, S
    Shiloh, Y
    Baumer, A
    Bernthaler, U
    Sennefelder, H
    Brohm, M
    Weber, BHF
    Schindler, D
    HUMAN MOLECULAR GENETICS, 1999, 8 (01) : 69 - 79
  • [32] Comments on the paper: The ATM gene and the radiobiology of ataxia-telangiectasia
    Foray, N
    Badie, C
    Arlett, CF
    Malaise, EP
    INTERNATIONAL JOURNAL OF RADIATION BIOLOGY, 1997, 71 (04) : 449 - 450
  • [33] Mice heterozygous for mutation in Atm, the gene involved in ataxia-telangiectasia, have heightened susceptibility to cancer
    Spring, K
    Ahangari, F
    Scott, SP
    Waring, P
    Purdie, DM
    Chen, PC
    Hourigan, K
    Ramsay, J
    McKinnon, PJ
    Swift, M
    Lavin, MF
    NATURE GENETICS, 2002, 32 (01) : 185 - 190
  • [34] Mice heterozygous for mutation in Atm, the gene involved in ataxia-telangiectasia, have heightened susceptibility to cancer
    Kevin Spring
    Farida Ahangari
    Shaun P. Scott
    Paul Waring
    David M. Purdie
    Philip C. Chen
    Kevin Hourigan
    Jonathan Ramsay
    Peter J. McKinnon
    Michael Swift
    Martin F. Lavin
    Nature Genetics, 2002, 32 : 185 - 190
  • [35] Role of the ataxia-telangiectasia gene (ATM) in breast cancer
    Lavin, M
    BRITISH MEDICAL JOURNAL, 1998, 317 (7157): : 486 - 487
  • [36] A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing
    Alonazi, Noufa Afri
    JOURNAL OF IMMUNOLOGY, 2018, 200 (01):
  • [37] Novel exonic mutation (5319 G to A) resulting in two aberrantly spliced transcripts of the ATM gene in a Japanese patient with ataxia-telangiectasia
    Fukao, T
    Tashita, H
    Teramoto, T
    Inoue, R
    Kaneko, H
    Komiyama, K
    Bar-Shira, A
    Gilad, S
    Shiloh, Y
    Nishimura, M
    Kondo, N
    HUMAN MUTATION, 1998, : S223 - S225
  • [38] A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing
    Alonazi, Noufa A.
    Hundollah, Khalid J.
    Al Hashem, Amal M.
    Mohamed, Sarar
    NEUROSCIENCES, 2018, 23 (02) : 162 - 164
  • [39] Management of Individuals With a Mutation in the Ataxia Telangiectasia Mutated Gene
    Mahon, Suzanne M.
    ONCOLOGY NURSING FORUM, 2016, 43 (01) : 114 - 117
  • [40] Mutation at Intronic Repeats of the Ataxia-Telangiectasia Mutated (ATM) Gene and ATM Protein Loss in Primary Gastric Cancer with Microsatellite Instability
    Kim, Hee Sung
    Choi, Seung Im
    Min, Hae Lim
    Kim, Min A.
    Kim, Woo Ho
    PLOS ONE, 2013, 8 (12):