Back to Search
Start Over
[Contribution of genetics to pathogenicity and diagnosis of Marfan syndrome]
- Source :
- Archives des Maladies du Coeur et des Vaisseaux, Archives des Maladies du Coeur et des Vaisseaux, J B Bailliere et Fils, 1997, 90 (12 Suppl), pp.1707-12, Europe PubMed Central, Archives des Maladies du Coeur et des Vaisseaux, J B Bailliere et Fils, 1997, pp.1707-1712
- Publication Year :
- 1997
- Publisher :
- HAL CCSD, 1997.
-
Abstract
- International audience; The anatomical substrate of Marfan's syndrome is a degeneration of elastic fibres and disorganization of the collagen. It is now known that these lesions are due to mutation of genes localised on chromosome 15. The first of them (FBN1) codes for the main constitutive protein of the elastic tissue: fibrillin 1, present mainly in structures which must resist load and stress (aortic adventitia, the suspending ligament of the lens, skin); the second (FBN2) codes for fibrillin 2: responsible for the orientation of the elastin and mainly present in cartilage, the aortic media, the bronchi, and all tissues rich in elastin. Mutations of FBN1 are very common and are associated not only with Marfan's syndrome but also fibrillinopathies: incomplete forms, neonatal forms, ectopic lens, isolated aneurysms of the thoracic aorta. The widespread distribution of fibrillin explains the pleiotropic nature of Marfan's syndrome and its clinical presentation. The variability of interfamilial expression is due to genetic heterogeneity (at least two genes) and alletic differences (different mutations of FBN1 from one family to another), also explaining mild forms due to quantitative reduction in normal fibrillin and severe forms by "negative dominance" where the fibrillin is structurally abnormal because of alteration of the polymerisation mechanism. The biologic diagnosis of fibrillopathy can be made by a protein test analysing fibrillin on a culture of the patient's fibroblast obtained by skin biopsy. At present, molecular diagnosis of the mutation within the FBN1 gene is not feasible as a routine procedure.
- Subjects :
- musculoskeletal diseases
congenital, hereditary, and neonatal diseases and abnormalities
MESH: Epidermal Growth Factor
MESH: Abnormalities, Multiple
MESH: Mutation
Fibrillin-2
MESH: Pedigree
Fibrillin-1
Molecular Sequence Data
[SDV.GEN] Life Sciences [q-bio]/Genetics
macromolecular substances
MESH: Amino Acid Sequence
[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics
[SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology
Fibrillins
Marfan Syndrome
MESH: Marfan Syndrome
MESH: Microfilament Proteins
[SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system
MESH: Child
Humans
Abnormalities, Multiple
Amino Acid Sequence
cardiovascular diseases
Child
Chromosomes, Human, Pair 15
[SDV.GEN]Life Sciences [q-bio]/Genetics
MESH: Molecular Sequence Data
MESH: Humans
Epidermal Growth Factor
integumentary system
Microfilament Proteins
MESH: Child, Preschool
MESH: Infant, Newborn
Infant, Newborn
Infant
[SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology
MESH: Infant
[SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system
Pedigree
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
Child, Preschool
Mutation
MESH: Chromosomes, Human, Pair 15
Subjects
Details
- Language :
- French
- ISSN :
- 00039683
- Database :
- OpenAIRE
- Journal :
- Archives des Maladies du Coeur et des Vaisseaux, Archives des Maladies du Coeur et des Vaisseaux, J B Bailliere et Fils, 1997, 90 (12 Suppl), pp.1707-12, Europe PubMed Central, Archives des Maladies du Coeur et des Vaisseaux, J B Bailliere et Fils, 1997, pp.1707-1712
- Accession number :
- edsair.pmid.dedup....ba7ae0bfaf98bad2a67552a3c34b670b