Consortium fine localization of X-Linked Charcot-Marie-Tooth disease (CMTX1)

additional support that connexin32 Is the defect in CMTX1

Margaret A. Pericak-Vance*, David F. Barker, Jo Ann Bergoffen, Phillip Chance, Susan Cochrane, Niklas Dahl, Mareike Christine Exler, Pamela R. Fain, Nicholas D. Fairweather, Kenneth Fischbeck, Andreas Gal, Neva Haites, R. Ionasescu, Victor V. Ionasescu, Marina L. Kennerson, Anthony P. Monaco, M. Mostaccuiolo, Garth A. Nicholson, Anna Sillén, Jonathan L. Haines

*Corresponding author for this work

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

Charcot-Marie-Tooth (CMT) disease is the most common form of inherited motor and sensory neuropathy. X-linked CMT (CMTX1) has been localized to the pericentric region of the X chromosome. Recently, mutations have been defined in the connexin 32 gene that cosegregate with the CMTX1 phenotype in several families. The present paper presents the results of an international consortium to fine map the gene for CMTX1 to a small segment of Xq12-13. The linkage data, together with the molecular genetic studies, support the hypothesis that connexin32 is the genetic defect in CMTX1.

Original languageEnglish
Pages (from-to)121-128
Number of pages8
JournalHuman Heredity
Volume45
Issue number3
DOIs
Publication statusPublished - 1995
Externally publishedYes

Keywords

  • Connexin32
  • Linkage
  • Neuropathy
  • X chromosome
  • X-linked charcot-marie-tooth disease

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    Pericak-Vance, M. A., Barker, D. F., Bergoffen, J. A., Chance, P., Cochrane, S., Dahl, N., ... Haines, J. L. (1995). Consortium fine localization of X-Linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 Is the defect in CMTX1. Human Heredity, 45(3), 121-128. https://doi.org/10.1159/000154272