Mutation in the nerve-specific 5'non-coding region of Cx32 gene and absence of specific mRNA in a CMTX1 Italian family. Mutations in brief no. 195. Online.

L. Flagiello, V. Cirigliano, M. Strazzullo, V. Cappa, A. Ciccodicola, M. D'Esposito, I. Torrente, R. Werner, G. Di Iorio, M. Rinaldi, A. Dallapiccola, A. Forabosco, V. Ventruto, M. D'Urso

Research output: Contribution to journalArticle

Abstract

Charcot-Marie-Tooth type I demyelinating neuropathies are genetically heterogeneous disorders (chrmosome 17,1,X). There are at least three genes on X chromosome, the more frequently involved being Cx32 in Xq13.1. Cx32 encodes for connexin-32, a gap junction protein of 283 aminoacids. We report the results of molecular studies in a CMTX1 Italian family, in which the mutation, found in the 5'-UTR, resulted in an abnormal mRNA connexin-32 expression. Mutations in PMP22 and P0 genes were also excluded in this family. Cx32 gene analysis carried out by PCR-SSCP on family members genomic DNAs, running a 321 bp fragment spanning the TATA box, the trasciptional start site, and the non coding exon 1b, revealed a shift correlated with a transition from C to T at position 40 of exon 1b of the 12 affected members, while was not found in the controls. Then the RT PCR-SSCP on cDNA from two peripheral nerve biopsies of two heterozygous females of the family were sequenced showing only the wild-type alleles and suggesting that mutated mRNAs were too unstable to be detected. The result also suggests a regulating role of the 5'-UTR of Cx32 mRNA.

Original languageEnglish
Pages (from-to)361
Number of pages1
JournalHuman Mutation
Volume12
Issue number5
Publication statusPublished - 1998

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Flagiello, L., Cirigliano, V., Strazzullo, M., Cappa, V., Ciccodicola, A., D'Esposito, M., Torrente, I., Werner, R., Di Iorio, G., Rinaldi, M., Dallapiccola, A., Forabosco, A., Ventruto, V., & D'Urso, M. (1998). Mutation in the nerve-specific 5'non-coding region of Cx32 gene and absence of specific mRNA in a CMTX1 Italian family. Mutations in brief no. 195. Online. Human Mutation, 12(5), 361.