Genetic Dissection of Marfan Syndrome and Related Connective Tissue Disorders: An Update 2012

Molecular Syndromology

S. Hoffjan¹ 

[1] Department of Human Genetics, Ruhr-University, Bochum, Germany

关键词: Connective tissue disorders;    Ehlers-Danlos syndrome;    Loeys-Dietz syndrome;    Marfan syndrome;   

DOI  :  10.1159/000339441

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

Marfan syndrome (MFS) is an autosomal dominant disorder of the connective tissue characterized by early development of thoracic aortic aneurysms/dissections together with symptoms of the ocular and skeletal systems. While most patients/families with a classic phenotypic expression of MFS harbour mutations in the gene encoding fibrillin-1 (FBN1), genetic studies of the recent years revealed that the clinical features, as well as the mutated genes, show a high degree of overlap between MFS and other connective tissue diseases (e.g. Loeys-Dietz syndrome, Ehlers-Danlos syndrome, familial thoracic aneurysms and dissections and others). We summarize herein the current knowledge about the wide spectrum of differential diagnoses and their genetic background as well as novel therapeutic approaches in order to provide appropriate counselling and clinical follow-up for the patients.

【 授权许可】

Unknown