A diagnosis of WS was suspected and genetic testing identified the presence of compound heterozygous mutations, the c.1859_1860del p.V620Gfs * 91 and the c.G2020A p.G674R, of the WFS1 gene; the patient’s parents and uncles carried heterozygous mutations, and both sisters carried compound heterozygous mutations. The gene discussed is WFS1; the disease is Werner syndrome.