A novel FBN1 gene mutation associated with earlyonset pneumothorax in Marfan syndrome

Abstract

JGM into a class of 10-12 nm calcium-binding microfibrils [4] that are abundantly expressed not only in elastic tissues, such as the aorta, lung and skin, but also in non-elastic tissues, such as the ciliary zonules of the eye [5]. A mutation in the FBN1 gene causes an interruption in microfibril formation, thereby resulting in attenuated connective tissue structure. Therefore, patients with MFS have a pleiotropic phenotype involving mainly the skeletal, ophthalmologic and cardiovascular systems [1,5].A family history of MFS may be helpful in the diagnosis, but new mutations are identified in approximately 25-30% of cases [1]. To date, more than 1,200 mutations in FBN1 have