The research progress in Marfan syndrome.
- Author:
Shao-hua ZHU
1
;
Liang LIU
Author Information
1. Department of Forensic Medicine, Tongji Medical college, Huazhong University of Science and Technology, Wuhan 430030, China. Shaohua_zhu@hotmail.com
- Publication Type:Review
- MeSH:
Cardiovascular Diseases/pathology*;
Eye Diseases/pathology*;
Genotype;
Humans;
Marfan Syndrome/pathology*;
Microfilament Proteins/genetics*;
Musculoskeletal Diseases/pathology*;
Mutation;
Phenotype
- From:
Journal of Forensic Medicine
2005;21(1):58-60
- CountryChina
- Language:Chinese
-
Abstract:
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.
