Hence, from a molecular point of view, the mutation spectrum in APS is different from classical HGPS with different variants reported, including a homozygous LMNA mutation (c.1583C>T; p.T528M) found in three boys presenting a mandibuloacral dysplasia (MAD) phenotype (A De Sandre-Giovannoli, personal communication); a composite heterozygous mutation (c.1583C>T and c.1619T>C; p.T528M and p.M540T, respectively) (18) and a heterozygous mutation c.1762T>C (p.C588R) (19, 20). This evidence concerns the gene LMNA and autoimmune polyendocrinopathy.