New Mutations in the X-Linked Form of Charcot-Marie-Tooth Disease
Philippe Latour(Hôpital de l'Antiquaille), Anne Fabreguette(Hôpital de l'Antiquaille), Catherine Ressot(Centre National de la Recherche Scientifique), Françoise Blanquet-Grossard(Centre National de la Recherche Scientifique), J.‐C. Antoine(Bellevue Hospital Center), Patrick Calvas(Hôpital Purpan), Françoise Chapon(Service de la Santé Publique), Emmanuel Corbillon(Hôpital Nord), E. Ollagnon(Hôtel-Dieu de Lyon), Franck Sturtz, M. Boucherat(Hôpital de l'Antiquaille), G Chazot, André Dautigny(Centre National de la Recherche Scientifique), Danielle Pham-Dinh(Centre National de la Recherche Scientifique), Antoon Vandenberghe(Hôpital de l'Antiquaille)
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Abstract
Mutations in the gene for connexin 32 are associated with a chromosome X-linked form of Charcot-Marie-Tooth disease. The prevalence of this form is probably underestimated. We screened 12 candidate families and found 7 missense mutations of which 4 are new. These mutations are located in intra- and extramembraneous parts of the protein. Some mutations are probably present with a higher frequency. This study further confirms variation of connexin 32 mutations with scarcity in the second transmembrane domain and, so far, absence in the fourth transmembrane domain and in the carboxy-terminal region.
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