NEW MUTATIONS IN THE X-LINKED FORM OF CHARCOT-MARIE-TOOTH DISEASE

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 lo cated in intra- and extramembraneous parts of the protein. Some mutati ons are probably present with a higher frequency. This study further c onfirms 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.