FBN1
Fibrillin-1 is the major component of extracellular microfibrils.
Fibrillin-1 is the major component of extracellular microfibrils.
Pathology
Mutations in the fibrillin-1 (FBN1) gene cause Marfan syndrome (MFS) and have been associated with a wide range of overlapping phenotypes.
mutations in the FBN1 gene in Marfan syndrome and other type 1 fibrillinopathies
in frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome (#12525539#)
mutation in familial kyphoscoliosis and vertebral dysplasia (#11992479#)
See also
fibrillins (FBNs)
- FBN2
References
Faivre L, Collod-Beroud G, Child A, Callewaert B, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Kiotsekoglou A, Comeglio P, Marziliano N, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Plauchu H, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G. Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.
J Med Genet. 2008 Jun;45(6):384-90. PMID: #18310266#
Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Ades LC, Biggin A, Benetts B, Brett M, Holman KJ, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C. Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study. Am J Hum Genet. 2007 Sep;81(3):454-66. PMID: #17701892#
Dietz HC, Pyeritz RE. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum Mol Genet. 1995;4 Spec No:1799-809. PMID: #8541880#