Genetika Marfanovega sindroma
The Marfan syndrome genetics

slovenian

2005

volume 74, issue 5

Collagen   Diagnosis   diagnostika   Elastic Tissue   Extracellular Matrix Proteins   Genetics   Marfan Syndrome   Mutation

Slovensko zdravniško društvo
(Obvezni izvod spletne publikacije)

Background. The Marfan syndrome is an autosomal dominant heritable disorder ofconnective tissue. It is caused by mutations in the fibrillin-1 gene encoding glycoprotein fibrillin-1, a component of microfibrils of extracellular matrix. Patients with Marfan syndrome show wide spectra of clinical signs, primarily on skeletal, cardiovascular and ocular organ systems. Cardiovascular complications (especially aortic aneurysm and aortic dissection) are the most common cause of mortality of Marfan syndrome patients. Discovering genotype-phenotype correlations is complicated because of the large number of mutations reported as well as clinical heterogeneity among individuals with the same mutation. Despite the progress in the knowledge of the molecular nature of Marfan syndrome the diagnosis is still based mainly on the clinical features in the different body systems. Conclusions. Early identification of patient with Marfan syndrome is of considerable importance because of appropriate treatment that can greatly improve life expectancy. Unfortunately, despite the improvement of diagnostic methods, medical and surgical therapy, the mortality due to undiagnosed Marfansyndrome is still high. The present article reviews the molecular genetic studies of Marfan syndrome since the discovery of the mutations in thefibrillin-1 gene.

10.04.2014