New SHOX mutations in patients with idiopathic short stature

Mutations of SHOX (Short Stature Homeobox) gene are associated with the short stature in Turner syndrome, Leri-Weill dyschondrosteosis and in some patients (2 to 15%) with idiopathic short stature (ISS). Nevertheless, recently it has been characterized the SHOX gene enhancer, whose deletions has been shown to be responsible for the Leri-Weill syndrome.We report the results of a study carried out on patients with ISS, investigated for the presence of SHOX gene and SHOX enhancer mutations.Fifty-three patients of both sexes (2-18 years) entered this study. The inclusion criteria were: 1) height