[The research progress in Marfan syndrome].
Marfan syndrome (MFS) is a potentially fatal connective disorder that is inherited as an autosomal dominant trait with a prevalence of around 2-3 in 10000 live births. It is characterized by defects in the cardiovascular, skeletal and ocular systems. Evidence from genetic indicates that mutations in FBN1, the gene that encodes fibrillin-1 are responsible for MFS. In addition to skeletal, ocular, and cardiovascular feathers, patients with MFS have also involvement of skin, integument, lungs, and muscle tissue, and the condition in sudden death is also very common due to severe abnormalities of cardiovascular system.
Zhu
Shao-hua
SH
Department of Forensic Medicine, Tongji Medical college, Huazhong University of Science and Technology, Wuhan 430030, China. Shaohua_zhu@hotmail.com
Liu
Liang
L
D002318:Cardiovascular Diseases / Q000209:etiology / Q000473:pathology; D005128:Eye Diseases / Q000209:etiology / Q000473:pathology; D005838:Genotype; D006801:Humans; D008382:Marfan Syndrome / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008840:Microfilament Proteins / Q000235:genetics*; D009140:Musculoskeletal Diseases / Q000209:etiology / Q000473:pathology; D009154:Mutation; D010641:Phenotype
D008840:Microfilament Proteins