ABSTRACT
This chapter presents the story of a small number of the variants, which we have studied in a rare disease, called Hereditary Hemorrhagic Telangiectasia (HHT). This disease was described for the first time in the latter years of the nineteenth century as a hereditary disorder leading to peculiar skin malformations called telangiectases. HHT is a genetic disorder: it is caused by mutations in genes coding for specific proteins. The genetic bases of HHT and the clinical correlations explain why most of our patients belong to families in which the disease is present. There is a worldwide distribution of HHT but, in some regions, the disease’s prevalence, estimated as 1 in 5,000, is unusually higher. In 1998, CO started molecular analyses and we were the first group in Italy to perform mutation analyses in HHT patients.
