ASSIGNMENT OF A 2ND CHARCOT-MARIE-TOOTH TYPE-II LOCUS TO CHROMOSOME-3Q

被引:0
|
作者
KWON, JM
ELLIOTT, JL
YEE, WC
IVANOVICH, J
SCAVARDA, NJ
MOOLSINTONG, PJ
GOODFELLOW, PJ
机构
[1] WASHINGTON UNIV,SCH MED,DEPT SURG,DIV GEN SURG,ST LOUIS,MO 63110
[2] WASHINGTON UNIV,SCH MED,DEPT NEUROL,ST LOUIS,MO 63110
[3] WASHINGTON UNIV,SCH MED,DEPT PEDIAT,DIV MED GENET,ST LOUIS,MO 63110
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Charcot-Marie-Tooth disease (CMT) is the most common inherited motor and sensory neuropathy. The neuronal form of this disorder is referred to as Charcot-Marie-Tooth type II disease (CMT2). CMT2 is usually inherited as an autosomal dominant trait with a variable age at onset of symptoms associated with progressive axonal neuropathy. In some families, the locus that predisposes to CMT2 has been demonstrated to map to the distal portion of the short arm of chromosome 1. Other families with CMT2 do not show linkage with Ip markers, suggesting genetic heterogeneity in CMT2. We investigated linkage in a single large kindred with autosomal dominant CMT2. The gene responsible for CMT2 in this kindred (CMT2B) was mapped to the interval between the microsatellite markers D3S1769 and D3S1744 in the 3q13-22 region. Study of additional CMT2 kindreds should serve to further refine the disease gene region and may ultimately lead to the identification of a gene defect that underlies the CMT2 phenotype.
引用
收藏
页码:853 / 858
页数:6
相关论文
共 50 条
  • [41] EVIDENCE AGAINST A 2ND AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA LOCUS CLOSE TO RHODOPSIN ON CHROMOSOME-3Q
    INGLEHEARN, C
    FARRAR, J
    DENTON, M
    GAL, A
    HUMPHRIES, P
    BHATTACHARYA, S
    AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (02) : 536 - 537
  • [42] CHROMOSOME-I LINKAGE STUDIES IN CHARCOT-MARIE-TOOTH NEUROPATHY TYPE-I
    GRIFFITHS, LR
    ZWI, MB
    MCLEOD, JG
    NICHOLSON, GA
    AMERICAN JOURNAL OF HUMAN GENETICS, 1988, 42 (05) : 756 - 771
  • [43] The polynucleotide kinase 3-phosphatase gene is not responsible for autosomal recessive Charcot-Marie-Tooth disease type 2 in chromosome 19q13.3.
    Leal, A
    Morera, B
    Del Valle, G
    Heuss, D
    Kayser, C
    Berghoff, M
    Neundoerfer, B
    Barrantes, R
    Reis, A
    Rautenstrauss, B
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 627 - 627
  • [44] Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease
    Loiseau, Dominique
    Chevrollier, Arnaud
    Verny, Christophe
    Guillet, Virginie
    Gueguen, Naig
    de Crescenzo, Marie-Anne Pou
    Ferre, Marc
    Malinge, Marie-Claire
    Guichet, Agnes
    Nicolas, Guillaume
    Amati-Bonneau, Patrizia
    Malthiery, Yves
    Bonneau, Dominique
    Reynier, Pascal
    ANNALS OF NEUROLOGY, 2007, 61 (04) : 315 - 323
  • [45] A 78 kb insertion from chromosome 8 at the CMTX3 locus causes a form of Charcot-Marie-Tooth neuropathy
    Allamand, Valerie
    M S-MEDECINE SCIENCES, 2016, 32 : 46 - 46
  • [46] The Mutational Spectrum of Charcot-Marie-Tooth Disease Type II in Chinese Population on Taiwan
    Lee, Yi-Chung
    Lin, Kon-Ping
    Soong, Bing-Wen
    NEUROLOGY, 2011, 76 (09) : A220 - A220
  • [47] Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3
    Nelis, E
    Berciano, J
    Verpoorten, N
    Coen, K
    Dierick, I
    Van Gerwen, V
    Combarros, O
    De Jonghe, P
    Timmerman, V
    JOURNAL OF MEDICAL GENETICS, 2004, 41 (03): : 193 - 197
  • [48] ALTERATIONS OF AUTOPHAGY IN CHARCOT-MARIE-TOOTH TYPE 2B DISEASE
    Bramato, R.
    Manganelli, F.
    Pisciotta, C.
    Santoro, L.
    Bucci, C.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2014, 19 : S4 - S4
  • [49] A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease
    Gonzalez, Michael A.
    Feely, Shawna M.
    Speziani, Fiorella
    Strickland, Alleene V.
    Danzi, Matt
    Bacon, Chelsea
    Lee, Youjin
    Chou, Tsui-Fen
    Blanton, Susan H.
    Weihl, Conrad C.
    Zuchner, Stephan
    Shy, Michael E.
    BRAIN, 2014, 137 : 2897 - 2902
  • [50] An Axon Regeneration Signature in a Charcot-Marie-Tooth Disease Type 2 Patient
    Cavalcanti, Francesca
    Kidd, Thomas
    Patitucci, Alessandra
    Valentino, Paola
    Bono, Francesco
    Nistico, Rita
    Quattrone, Aldo
    JOURNAL OF NEUROGENETICS, 2009, 23 (03) : 324 - 328