| abstract |
The invention is derived from the identification of mutations in the GJB6 gene, responsible for Clouston's syndrome. The symptomatology of said syndrome suggests that the GJB6 coding for connexin 30 (Cx-30), is most probably involved also in other types of alopecia with genetic susceptibility, in particular non-pathological. Therefore, the invention concerns the GJB6 gene sequence bearing at least one of the mutations 31 (G>A) and 263 (C>T), responsible for Clouston's syndrome, and the use of constructs comprising the GJB6 gene, both for preparing pharmaceutical compositions for treating Clouston's syndrome and/or certain disorders of the body hair system, and for screening molecules likely to have a beneficial effect in the treatment of alopecia. The invention also concerns methods for diagnosing Clouston's syndrome. |