Editorial: Advances in molecular genetics of Marfan syndrome and related disorders

Marfan syndrome (MFS, OMIM#154700) is a rare heritable multisystem connective tissue disorder 9 (HCTD) with an estimated incidence of 1 in 3000-5000 individuals. The syndrome is characterized by 10 a variable combination of cardiovascular (major blood vessels and heart valves), musculoskeletal, 11 ocular (e.g., ectopia lentis, myopia), and pulmonary manifestations leading to variable phenotypic 12 expression. It is inherited in an autosomal dominant pattern. The disease occurs worldwide, with no 13 preference for race or gender. In 90% of cases, it is caused by mutations in the Fibrillin-