Short Report: Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population

From 1995 to 2004, 979 families with hereditary peripheral neuropathy were referred to the Genetic Diagnosis Center. Using single-strand conformation analysis (SSCA), the connexin 32 gene was analysed in all the patients from 498 families with sporadic or dominant inheritance with no male-to-male tr...

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Bibliographic Details
Published in:Clinical genetics 2006-12, Vol.70 (6), p.516
Main Authors: Casasnovas, C, Banchs, I, Corral, J, Martínez-Matos, JA, Volpini, V
Format: Article
Language:English
Subjects:
Genes
Genetic disorders
Genetic testing
Medical diagnosis
Mutation
Neurological disorders
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Summary:From 1995 to 2004, 979 families with hereditary peripheral neuropathy were referred to the Genetic Diagnosis Center. Using single-strand conformation analysis (SSCA), the connexin 32 gene was analysed in all the patients from 498 families with sporadic or dominant inheritance with no male-to-male transmission and absence of the 17p2 duplication or deletion. Affected males had pes cavus, distal leg weakness, muscular distal atrophy, areflexia and distal sensory loss. The 106 families in which SSCA revealed abnormal migration electrophoresis were directly sequenced. We found 34 families (59 patients) with mutations in connexin 32 gene. In electrophysiological studies, 58.8% families presented slow and 14.7% intermediate nerve conduction velocities. Molecular findings revealed that codon 164 (29.4 +/- 15.3%) and the second extracellular (EC2) domain (44.1 +/- 16.6%) were the most frequently affected codon and domain of the connexin 32. Six novel mutations, Leu39fs, Glu47Gly, His153fs, Cys179Tyr, Cys201Phe and Ser211fs, were found in our study. [PUBLICATION ABSTRACT]
ISSN:0009-9163
1399-0004
DOI:10.1111/j.1399-0004.2006.00724.x