title: Mutation analysis of the FBN1 gene in patients with Marfan syndrome.
abstract: Marfan syndrome is an autosomal-dominant connective tissue disorder characterized by pleiotropic manifestations involving the skeletal, ocular, and cardiovascular systems and resulting from mutations in the gene for fibrillin, FBN1. The clinical diagnosis is based on a set of well-defined clinical criteria (Ghent nosology). Nevertheless, the age-related nature of some clinical manifestations and the variable phenotypic expression of the disorder may hamper the diagnosis. In those instances, molecular analysis of the FBN1 gene is helpful to identify at-risk individuals. Mutations are spread over the entire FBNJ gene and there are no particular hot spots. Different standard methodologies are available to identify these mutations, however, one of the most sensitive techniques is denaturing high-performance liquid chromatography. This approach allows the performance of the analysis in a semi-automated manner and has a mutation detection rate of approx 95%.
authors.affiliation: Department of Medical Genetics, Ghent University Hospital, Belgium.
authors.forename: Paul
authors.initials: P
authors.lastname: Coucke
authors.forename: Petra
authors.initials: P
authors.lastname: Van Acker
authors.forename: Anne
authors.initials: A
authors.lastname: De Paepe
mesh_terms: D002478:Cells, Cultured; D002851:Chromatography, High Pressure Liquid; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D004252:DNA Mutational Analysis / Q000379:methods*; D018076:DNA, Complementary / Q000096:biosynthesis; D000071838:Fibrillin-1; D000071837:Fibrillins; D015894:Genome, Human / Q000235:genetics; D006801:Humans; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D021141:Nucleic Acid Amplification Techniques; D009691:Nucleic Acid Denaturation; D012333:RNA, Messenger / Q000302:isolation & purification; D054392:Adipokines
chemical_list: D004247:DNA; D018076:DNA, Complementary; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; D012333:RNA, Messenger; C000605722:FBN1 protein, human; D054392:Adipokines