title: Genetic disorders of the elastic fiber system.
abstract: 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 least 19 different proteins that comprise both the microfibrillar and the amorphous components of elastic fibers. Mutations in three of the genes encoding the most abundant of these elastic fiber proteins result in a broad spectrum of elastic tissue phenotypes, ranging from skeletal and skin abnormalities to vascular and ocular defects. The following disorders will be discussed in this review: supravalvular aortic stenosis; Williams-Beuren syndrome; cutis laxa; Marfan syndrome; ectopia lentis; familial thoracic aortic aneurysms and dissections; MASS syndrome; isolated skeletal features of Marfan syndrome; Shprintzen-Goldberg syndrome; and congenital contractural arachnodactyly.
authors.affiliation: Department of Internal Medicine, University of Texas Medical School, 6431 Fannin, MSB 1.614, Houston, TX 77030, USA. milewicz@heart.med.utc.tmc.ed
authors.forename: D M
authors.initials: DM
authors.lastname: Milewicz
authors.forename: Z
authors.initials: Z
authors.lastname: Urbán
authors.forename: C
authors.initials: C
authors.lastname: Boyd
mesh_terms: D021921:Aortic Stenosis, Supravalvular / Q000235:genetics; D003240:Connective Tissue Diseases / Q000235:genetics*; D003483:Cutis Laxa / Q000235:genetics; D004547:Elastic Tissue / Q000737:chemistry; D004549:Elastin / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics; D000071837:Fibrillins; D006801:Humans; D008382:Marfan Syndrome / Q000235:genetics; D008840:Microfilament Proteins / Q000235:genetics*; D009154:Mutation; D010641:Phenotype
chemical_list: D016326:Extracellular Matrix Proteins; D000071837:Fibrillins; D008840:Microfilament Proteins; D004549:Elastin