FBNs
Fibrillins are extracellular matrix macromolecules that perform architectural functions in most connective tissues. Fibrillins assemble into microfibrils that can be identified ultrastructurally as uniform, small-diameter fibrils
Members
| FBN1 | FBN2 | FBN3 |
Pathology (fibrillinopathies)
FBN1:
- germline mutations of FBN1 in Marfan disease
- germline mutations of FBN1 in severe classic Marfan disease
- germline mutations of FBN1 in mild variable Marfan disease
- germline mutations of FBN1 in atypical Marfan disease
- germline mutations of FBN1 in neonatal Marfan disease
- germline mutations of FBN1 in marfanoid skeletal syndrome
- germline mutations of FBN1 in MASS syndrome
- germline mutations of FBN1 in familial ectopia lentis (MIM.129600)
- germline mutations of FBN1 in Shprintzen-Goldberg syndrome (SGS) (MIM.182212)
- germline mutations of FBN1 in autosomal dominant Weill-Marchesani syndrome (MIM.608328)
FBN2: germline mutations in congenital contractural arachnodactyly (CCA)