Publication
Title
Genetic fibrillinopathies: New insights in molecular diagnosis and clinical management
Author
Abstract
The Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with a prevalence of 2-3 per 10.000 individuals and symptoms ranging from skeletal overgrowth, cutaneous striae to ectopia lentis and aortic dilatation leading to dissection. Mutation in the gene for fibrillin-1 (FBN1) cause MFS and other related disorders of connective tissue, grouped as fibrillinopathies. Fibrillin-1 is the main constituent of extracellular microfibrils. Microfibrils can exist as individual structures or associate with elastin to form elastic fibers. This article provides an overview of the current diagnostic criteria and medical management, estimates the role of fibrillin-1 mutation analysis, sheds new light on genotype-phenotype correlations and summarizes new insights on the pathogenesis of this disorder based on mouse models.
Language
English
Source (journal)
Acta clinica Belgica. - Leuven, 1946 - 1997
Publication
Ghent : Acta clinica belgica , 2003
ISSN
0001-5512
Volume/pages
58 :1 (2003) , p. 3-11
ISI
000182015300001
Full text (Publisher's DOI)
UAntwerpen
Publication type
Subject
External links
Web of Science
Record
Identification
Creation 05.11.2018
Last edited 06.09.2021