Novel missense mutation of the connexin32 (GJB1) gene in X‐linked dominant charcot‐marie‐tooth neuropathy

Schiavon, F.; Fracasso, Cinzia; Mostacciuolo, Maria Luisa

doi:10.1002/(sici)1098-1004(1996)8:1<83::aid-humu14>3.3.co;2-#

Hum. Mutat.

1996

DOI: 10.1002/(sici)1098-1004(1996)8:1<83::aid-humu14>3.3.co;2-#

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Novel missense mutation of the connexin32 (GJB1) gene in X‐linked dominant charcot‐marie‐tooth neuropathy

F. Schiavon¹,

Cinzia Fracasso²,

Maria Luisa Mostacciuolo³

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2006

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“…Molecular genetic analysis of the GJB1 gene is crucial for CMTX1 diagnosis and for genetic counselling. To date, molecular genetic analysis of the GJB1 gene revealed 283 mutations (2, 3, 7, 8, 12–25). We report the molecular genetic analysis of 36 families (60 patients) of Spanish and Portuguese descent.…”

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Clinical and molecular analysis of X‐linked Charcot‐Marie‐Tooth disease type 1 in Spanish population

et al. 2006

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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.

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Clinical and molecular analysis of X‐linked Charcot‐Marie‐Tooth disease type 1 in Spanish population

et al. 2006

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Novel missense mutation of the connexin32 (GJB1) gene in X‐linked dominant charcot‐marie‐tooth neuropathy

Cited by 1 publication

References 0 publications

Clinical and molecular analysis of X‐linked Charcot‐Marie‐Tooth disease type 1 in Spanish population

Clinical and molecular analysis of X‐linked Charcot‐Marie‐Tooth disease type 1 in Spanish population

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