Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies

Hayward, C.; Brock, D.J.

Human Mutation 10(6): 415-423


ISSN/ISBN: 1059-7794
PMID: 9401003
DOI: 10.1002/(sici)1098-1004(1997)10:6<415::aid-humu1>;2-c
Accession: 008684084

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Fibrillin is the major component of extracellular microfibrils and is widely distributed in connective tissue throughout the body. Mutations in the fibrillin-1 (FBN1) gene, on chromosome 15q21.1, have been found to cause Marfan syndrome, a dominantly inherited disorder characterised by clinically variable skeletal, ocular, and cardiovascular abnormalities. Fibrillin-1 mutations have also been found in several other related connective tissue disorders, such as severe neonatal Marfan syndrome, dominant ectopia lentis, familial ascending aortic aneurysm, isolated skeletal features of Marfan syndrome, and Shprintzen-Goldberg syndrome. Mutations are spread throughout the gene and, with the exception of neonatal Marfan syndrome, show no obvious clustering or phenotypic association.