Genetic testing was done in 27 patients and was positive for EDS-specific mutations in 6 patients, including 3 patients with vEDS (COL3A1 mutation), 2 patients with cEDS (one patient with COL5A1 mutation, and the other was not specified) and 1 patient with myopathic EDS (COL12A1) mutation. The gene discussed is COL5A1; the disease is Ehlers-Danlos syndrome.