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Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing.
Int J Mol Med. 2001 Oct; 8(4):461-8.IJ

Abstract

Charcot-Marie-Tooth disease (CMT) is characterized by distal muscle weakness and wasting, often resulting in foot deformities and gait disturbances, 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 beta-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.

Authors+Show Affiliations

Department of Child Neurology, Second School of Medicine, Charles University Prague, V úvalu 84, Praha 5, Czech Republic. pavel.seeman@lfmotol.cuni.czNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

11562788

Citation

Seeman, P, et al. "Charcot-Marie-Tooth Type X: a Novel Mutation in the Cx32 Gene With Central Conduction Slowing." International Journal of Molecular Medicine, vol. 8, no. 4, 2001, pp. 461-8.
Seeman P, Mazanec R, Ctvrtecková M, et al. Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing. Int J Mol Med. 2001;8(4):461-8.
Seeman, P., Mazanec, R., Ctvrtecková, M., & Smilková, D. (2001). Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing. International Journal of Molecular Medicine, 8(4), 461-8.
Seeman P, et al. Charcot-Marie-Tooth Type X: a Novel Mutation in the Cx32 Gene With Central Conduction Slowing. Int J Mol Med. 2001;8(4):461-8. PubMed PMID: 11562788.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing. AU - Seeman,P, AU - Mazanec,R, AU - Ctvrtecková,M, AU - Smilková,D, PY - 2001/9/20/pubmed PY - 2002/1/5/medline PY - 2001/9/20/entrez SP - 461 EP - 8 JF - International journal of molecular medicine JO - Int. J. Mol. Med. VL - 8 IS - 4 N2 - Charcot-Marie-Tooth disease (CMT) is characterized by distal muscle weakness and wasting, often resulting in foot deformities and gait disturbances, 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 beta-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. SN - 1107-3756 UR - https://www.unboundmedicine.com/medline/citation/11562788/Charcot_Marie_Tooth_type_X:_A_novel_mutation_in_the_Cx32_gene_with_central_conduction_slowing_ L2 - http://www.spandidos-publications.com/ijmm/8/4/461 DB - PRIME DP - Unbound Medicine ER -