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Clinical and molecular analysis of X‐linked Charcot‐Marie‐Tooth disease type 1 in Spanish population
Author(s) -
Casasnovas C,
Banchs I,
Corral J,
MartínezMatos JA,
Volpini V
Publication year - 2006
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2006.00724.x
Subject(s) - pes cavus , genetics , connexin , connexin 32 , biology , atrophy , population , medicine , anatomy , intracellular , environmental health , gap junction , complication
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.