Exclusion of the SCN28 gene as candidate for CMT4B

Alessandra Bolino, Marco Seri, Francesco Caroli, James Eubanks, Jayashree Srinivasan, Paola Mandich, Angelo Schenone, Aldo Quattrone, Giovanni Romeo, William A. Catterall, Marcella Devoto

Research output: Contribution to journalArticle

Abstract

Charcot-Marie-Tooth disease type 4B (CMT4B) is a demyelinating autosomal recessive motor and sensory neuropathy characterised by focally folded myelin sheaths in the peripheral nerve. The CMT4B gene has been localised by homozygosity mapping and haplotype sharing in the 11q23 region. A cDNA encoding for the β2 subunit of the human brain sodium channel, SCN2B, has been recently assigned to the same chromosomal interval by FISH. The SCN2B gene has been considered a good candidate for CMT4B on the basis of protein homology, chromosomal localisation, and putative biological function of the coded product. In this paper, we report the genomic structure of the SCN2B gene consisting of 4 exons and 3 introns spanning a region of approximately 12 Kb. In addition, a search for mutations in patients affected with CMT4B as well as a refined physical localisation excludes SCN2B as the CMT4B gene.

Original languageEnglish
Pages (from-to)629-634
Number of pages6
JournalEuropean Journal of Human Genetics
Volume6
Issue number6
Publication statusPublished - Nov 1998

Keywords

  • Genomic structure
  • Peripheral neuropathy
  • Physical mapping
  • Sodium channel

ASJC Scopus subject areas

  • Genetics(clinical)

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    Bolino, A., Seri, M., Caroli, F., Eubanks, J., Srinivasan, J., Mandich, P., Schenone, A., Quattrone, A., Romeo, G., Catterall, W. A., & Devoto, M. (1998). Exclusion of the SCN28 gene as candidate for CMT4B. European Journal of Human Genetics, 6(6), 629-634.