Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing

  • Authors:
    • Pavel Seeman
    • Radim Mazanec
    • Marketa Ctvrteckova
    • Dagmar Smilkova
  • View Affiliations

  • Published online on: October 1, 2001     https://doi.org/10.3892/ijmm.8.4.461
  • Pages: 461-468
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )


Abstract

Charcot-Marie-Tooth disease (CMT) is characterized by distal muscle weakness and wasting, often resulting in foot deformities and gait disturbancies, distal sensory impairment and by more or less typical changes in sural nerve biopsy. CMT type 1 is also characterized by reduced nerve conduction velocities. For these demyelinating subtypes, most frequently a 1.5 Mb tandem duplication in chromosome 17p11.2-12 comprising the gene for the peripheral myelin protein 22 (PMP22) is observed (CMT1A), but point mutations in PMP22 have also rarely been reported. X-linked, dominant CMTX1 disease is the second most common type of these hereditary motor and sensory neuropathies (HMSN). Mutations in the X chromosomal gene Connexin32 (Cx32) synonymous gap junction β-1 (GJB1) are detectable in most X-linked CMT families. We report a novel missense mutation - Tyr65His - in the first extracelullar domain of the Cx32 gene in a Czech CMTX1 family. The mutation was not detectable in 50 healthy controls. The clinical phenotype in both the male proband and his mother was moderate with pronounced peroneal weakness and foot drop. Nerve conduction velocities were intermediately decreased (31-38 m/s) in both patients and slowing of central acoustic conduction (BAEP) was found in both the son and the mother whereas visual central conduction slowing (VEP) was detectable only in the son.

Related Articles

Journal Cover

October 2001
Volume 8 Issue 4

Print ISSN: 1107-3756
Online ISSN:1791-244X

Sign up for eToc alerts

Recommend to Library

Copy and paste a formatted citation
x
Spandidos Publications style
Seeman P, Mazanec R, Ctvrteckova M and Smilkova D: Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing. Int J Mol Med 8: 461-468, 2001.
APA
Seeman, P., Mazanec, R., Ctvrteckova, M., & Smilkova, D. (2001). Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing. International Journal of Molecular Medicine, 8, 461-468. https://doi.org/10.3892/ijmm.8.4.461
MLA
Seeman, P., Mazanec, R., Ctvrteckova, M., Smilkova, D."Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing". International Journal of Molecular Medicine 8.4 (2001): 461-468.
Chicago
Seeman, P., Mazanec, R., Ctvrteckova, M., Smilkova, D."Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing". International Journal of Molecular Medicine 8, no. 4 (2001): 461-468. https://doi.org/10.3892/ijmm.8.4.461