Human Genetics

, Volume 99, Issue 4, pp 501–505

Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

  • E. A. M. Janssen
  • Stephan Kemp
  • Gerard W. Hensels
  • Ongie G. Sie
  • Christine E. M. de Die-Smulders
  • Jessica E. Hoogendijk
  • Marianne de Visser
  • Pieter A. Bolhuis
Original investigation

DOI: 10.1007/s004390050396

Cite this article as:
Janssen, E., Kemp, S., Hensels, G. et al. Hum Genet (1997) 99: 501. doi:10.1007/s004390050396

Abstract

Single-strand conformational polymorphisms (SSCP) of the connexin32 gene were analyzed in 121 patients possibly affected by Charcot-Marie-Tooth (CMT) disease. The 121 patients were selected from 443 possible CMT/HNPP (hereditary neuropathy with liability to pressure palsies) patients based on genetic linkage to Xq13.1, absence of the 17p12 duplication and deletion, and absence of point mutations in PMP22 and P0. We found five new mutations at nucleotides 105 (C-T), 316 (C-G), 321 (C-T), 328 (T-C), and 657 (G-C), and three mutations at nucleotide 126 (C-T), 249 (G-A), and 477 (G-A) previously described in other unrelated families. The nucleotide changes resulted in seven amino-acid substitutions and one premature stop codon.

Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • E. A. M. Janssen
    • 1
  • Stephan Kemp
    • 1
  • Gerard W. Hensels
    • 1
  • Ongie G. Sie
    • 2
  • Christine E. M. de Die-Smulders
    • 3
  • Jessica E. Hoogendijk
    • 4
  • Marianne de Visser
    • 1
  • Pieter A. Bolhuis
    • 1
  1. 1.Department of Neurology, Academic Medical Center, Meibergdreef 9, NL-1105 AZ Amsterdam, The Netherlands Tel.: +31-20-566 4540; Fax: +31-20-697 1438; e-mail: E.Janssen@amc.uva.nlNL
  2. 2.Department of Neurology, Academic Hospital, Groningen, The NetherlandsNL
  3. 3.Department of Neurology, Academic Hospital, Maastricht, The NetherlandsNL
  4. 4.Department of Neurology, University Hospital, Utrecht, The NetherlandsNL