Article Text

Download PDFPDF
The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease.
  1. F Meggouh,
  2. A Benomar,
  3. H Rouger,
  4. S Tardieu,
  5. N Birouk,
  6. J Tassin,
  7. C Barhoumi,
  8. M Yahyaoui,
  9. T Chkili,
  10. A Brice,
  11. E LeGuern
  1. Laboratoire de Neurogénétique, Hôpital des Spécialités, Rabat, Morocco.


    X linked Charcot-Marie-Tooth disease (CMTX) is a hereditary motor and sensory neuropathy caused by mutations in the connexin 32 gene (Cx32). Using the SSCP technique and direct sequencing of PCR amplified genomic DNA fragments of the Cx32 gene from a Moroccan patient and her relatives, we identified the first de novo mutation of the Cx32 gene, consisting of a deletion of a G residue at position 499 in the Cx32 open reading frame. This previously unreported mutation produces a frameshift at position 147 in the protein and introduces a premature stop codon (TAG) at nucleotide 643, which results in the production of a truncated Cx32 molecule. This mutation illustrates the risk of an erroneous diagnosis of autosomal recessive CMT, especially in populations where consanguineous unions are frequent, and its consequences for genetic counselling, which can be avoided by molecular analysis.

    Statistics from

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.