Genetic disorders of the elastic fiber system

Over the last decade, a considerable amount of new information has emerged describing the protein components of elastic fibers. It is now evident that elastic fibers are complex extracellular matrix polymers, composed of at l east 19 different proteins that comprise both the microfibrillar and the am orphous components of elastic fibers. Mutations in three of the genes encod ing the most abundant of these elastic fiber proteins result in a broad spe ctrum of elastic tissue phenotypes, ranging from skeletal and skin abnormal ities to vascular and ocular defects. The following disorders will be discu ssed in this review: supravalvular aortic stenosis; Williams-Beuren syndrom e; cutis laxa; Marfan syndrome; ectopia lentis; familial thoracic aortic an eurysms and dissections; MASS syndrome; isolated Skeletal features of Marfa n syndrome; Shprintzen-Goldberg syndrome; and congenital contractural arach nodactyly. (C) 2000 Elsevier Science B.V. International Society of Matrix B iology. All rights reserved.