Hayward C, Brock D J
Human Genetics Unit, Molecular Medicine Centre, University of Edinburgh, Scotland.
Hum Mutat. 1997;10(6):415-23. doi: 10.1002/(SICI)1098-1004(1997)10:6<415::AID-HUMU1>3.0.CO;2-C.
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.
原纤维蛋白是细胞外微原纤维的主要成分，广泛分布于全身结缔组织中。已发现位于15号染色体q21.1区域的原纤维蛋白-1（FBN1）基因突变会导致马凡综合征，这是一种常染色体显性遗传性疾病，其特征为骨骼、眼部和心血管方面存在临床差异的异常表现。在其他几种相关的结缔组织疾病中也发现了原纤维蛋白-1突变，如重症新生儿马凡综合征、显性晶状体异位、家族性升主动脉瘤、马凡综合征的孤立骨骼特征以及施普林曾-戈德堡综合征。突变遍布整个基因，除了新生儿马凡综合征外，没有明显的聚集现象或表型关联。
