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Fibrillin‐1 mutations in Marfan syndrome and other type‐1 fibrillinopathies
Author(s) -
Hayward Caroline,
Brock David J. H.
Publication year - 1997
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1997)10:6<415::aid-humu1>3.0.co;2-c
Subject(s) - fibrillin , marfan syndrome , ectopia lentis , connective tissue disorder , connective tissue , biology , genetics , gene , mutation , pathology , medicine
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. Hum Mutat 10:415–423, 1997. © 1997 Wiley‐Liss, Inc.