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

Seeman,Pavel; Mazanec,Radim; Ctvrteckova,Marketa; Smilkova,Dagmar

doi:10.3892/ijmm.8.4.461

October 2001 Volume 8 Issue 4

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October 2001 Volume 8 Issue 4

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Article

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 / Copyright

Affiliations: Department of Child Neurology, Second School of Medicine, Charles University Prague, Praha 5, Czech Republic
Pages: 461-468
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Published online on: October 1, 2001

https://doi.org/10.3892/ijmm.8.4.461
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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.

Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

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

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Abstract

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