FBN1

Summary

Gene Symbol: FBN1
Description: fibrillin 1
Alias: ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFLS, MFS1, OCTD, SGS, SSKS, WMS, WMS2, fibrillin-1, asprosin, fibrillin 15, fibrillin-1 preproprotein
Species: human
Products:     FBN1

Top Publications

  1. Isogai Z, Ono R, Ushiro S, Keene D, Chen Y, Mazzieri R, et al. Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein. J Biol Chem. 2003;278:2750-7 pubmed
    ..In tissues where LTBP-1 is not expressed, LTBP-4 may substitute for LTBP-1, because the C-terminal end of LTBP-4 binds equally well to fibrillin. A model depicting the relationship between LTBP-1 and fibrillin microfibrils is proposed. ..
  2. de Vries B, Pals G, Odink R, Hamel B. Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome. Eur J Hum Genet. 2007;15:930-5 pubmed
    ..primarily the skeletal, ocular and cardiovascular systems, and caused by mutations in the gene for fibrillin1 (FBN1). Here, we report on two cousins from a consanguineous family with a homozygous c.1,453C>T FBN1 mutation (p...
  3. Kainulainen K, Karttunen L, Puhakka L, Sakai L, Peltonen L. Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Nat Genet. 1994;6:64-9 pubmed
    Mutations in the gene coding for fibrillin on chromosome 15 (FBN1) are known to cause Marfan syndrome (MFS). A related disorder, dominant ectopia lentis (EL), has also been linked genetically to this locus...
  4. Vanita V, Singh J, Singh D, Varon R, Robinson P, Sperling K. A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin. Mol Vis. 2007;13:2035-40 pubmed
    ..To identify the genetic defect in an autosomal dominant ectopia lentis (EL) family having 27 affected members in four generations...
  5. Toyoshima T, Yamashita K, Furuichi H, Shishibori T, Itano T, Kobayashi R. Ultrastructural distribution of 36-kD microfibril-associated glycoprotein (MAGP-36) in human and bovine tissues. J Histochem Cytochem. 1999;47:1049-56 pubmed
    ..Localization of MAGP-36 in elastic fibers coincided with the distribution of lysyl oxidase, an enzyme that plays a pivotal role in the deposition of tropoelastin. These findings suggest that MAGP-36 may be involved in elastogenesis. ..
  6. Faivre L, Masurel Paulet A, Collod Beroud G, Callewaert B, Child A, Stheneur C, et al. Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics. 2009;123:391-8 pubmed publisher
    From a large series of 1009 probands with pathogenic FBN1 mutations, data for 320 patients <18 years of age at the last follow-up evaluation were analyzed (32%). At the time of diagnosis, the median age was 6.5 years...
  7. Detaint D, Faivre L, Collod Beroud G, Child A, Loeys B, Binquet C, et al. Cardiovascular manifestations in men and women carrying a FBN1 mutation. Eur Heart J. 2010;31:2223-9 pubmed publisher
    ..This study evaluates the cardiovascular (CV) risk associated with the discovery of a fibrillin-1 (FBN1) mutation.
  8. Rommel K, Karck M, Haverich A, von Kodolitsch Y, Rybczynski M, Müller G, et al. Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome. Hum Mutat. 2005;26:529-39 pubmed
    ..disorder of the fibrous connective tissue that is typically caused by mutations in the gene coding for fibrillin-1 (FBN1), a major component of extracellular microfibrils...
  9. Biery N, Eldadah Z, Moore C, Stetten G, Spencer F, Dietz H. Revised genomic organization of FBN1 and significance for regulated gene expression. Genomics. 1999;56:70-7 pubmed
    b>FBN1 encodes fibrillin-1, an extracellular matrix protein that is defective in Marfan syndrome. This gene is divided into 65 exons and was previously reported to be approximately 110 kb in length...
  10. Jovanovic J, Takagi J, Choulier L, Abrescia N, Stuart D, van der Merwe P, et al. alphaVbeta6 is a novel receptor for human fibrillin-1. Comparative studies of molecular determinants underlying integrin-rgd affinity and specificity. J Biol Chem. 2007;282:6743-51 pubmed
    ..Non-focal contact distribution of alpha5beta1 suggests that its engagement by fibrillin-1 may elicit a lesser degree and/or different type of intracellular signaling compared with that seen with a high affinity ligand. ..

Detail Information

Publications93

  1. Isogai Z, Ono R, Ushiro S, Keene D, Chen Y, Mazzieri R, et al. Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein. J Biol Chem. 2003;278:2750-7 pubmed
    ..In tissues where LTBP-1 is not expressed, LTBP-4 may substitute for LTBP-1, because the C-terminal end of LTBP-4 binds equally well to fibrillin. A model depicting the relationship between LTBP-1 and fibrillin microfibrils is proposed. ..
  2. de Vries B, Pals G, Odink R, Hamel B. Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome. Eur J Hum Genet. 2007;15:930-5 pubmed
    ..primarily the skeletal, ocular and cardiovascular systems, and caused by mutations in the gene for fibrillin1 (FBN1). Here, we report on two cousins from a consanguineous family with a homozygous c.1,453C>T FBN1 mutation (p...
  3. Kainulainen K, Karttunen L, Puhakka L, Sakai L, Peltonen L. Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Nat Genet. 1994;6:64-9 pubmed
    Mutations in the gene coding for fibrillin on chromosome 15 (FBN1) are known to cause Marfan syndrome (MFS). A related disorder, dominant ectopia lentis (EL), has also been linked genetically to this locus...
  4. Vanita V, Singh J, Singh D, Varon R, Robinson P, Sperling K. A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin. Mol Vis. 2007;13:2035-40 pubmed
    ..To identify the genetic defect in an autosomal dominant ectopia lentis (EL) family having 27 affected members in four generations...
  5. Toyoshima T, Yamashita K, Furuichi H, Shishibori T, Itano T, Kobayashi R. Ultrastructural distribution of 36-kD microfibril-associated glycoprotein (MAGP-36) in human and bovine tissues. J Histochem Cytochem. 1999;47:1049-56 pubmed
    ..Localization of MAGP-36 in elastic fibers coincided with the distribution of lysyl oxidase, an enzyme that plays a pivotal role in the deposition of tropoelastin. These findings suggest that MAGP-36 may be involved in elastogenesis. ..
  6. Faivre L, Masurel Paulet A, Collod Beroud G, Callewaert B, Child A, Stheneur C, et al. Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics. 2009;123:391-8 pubmed publisher
    From a large series of 1009 probands with pathogenic FBN1 mutations, data for 320 patients <18 years of age at the last follow-up evaluation were analyzed (32%). At the time of diagnosis, the median age was 6.5 years...
  7. Detaint D, Faivre L, Collod Beroud G, Child A, Loeys B, Binquet C, et al. Cardiovascular manifestations in men and women carrying a FBN1 mutation. Eur Heart J. 2010;31:2223-9 pubmed publisher
    ..This study evaluates the cardiovascular (CV) risk associated with the discovery of a fibrillin-1 (FBN1) mutation.
  8. Rommel K, Karck M, Haverich A, von Kodolitsch Y, Rybczynski M, Müller G, et al. Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome. Hum Mutat. 2005;26:529-39 pubmed
    ..disorder of the fibrous connective tissue that is typically caused by mutations in the gene coding for fibrillin-1 (FBN1), a major component of extracellular microfibrils...
  9. Biery N, Eldadah Z, Moore C, Stetten G, Spencer F, Dietz H. Revised genomic organization of FBN1 and significance for regulated gene expression. Genomics. 1999;56:70-7 pubmed
    b>FBN1 encodes fibrillin-1, an extracellular matrix protein that is defective in Marfan syndrome. This gene is divided into 65 exons and was previously reported to be approximately 110 kb in length...
  10. Jovanovic J, Takagi J, Choulier L, Abrescia N, Stuart D, van der Merwe P, et al. alphaVbeta6 is a novel receptor for human fibrillin-1. Comparative studies of molecular determinants underlying integrin-rgd affinity and specificity. J Biol Chem. 2007;282:6743-51 pubmed
    ..Non-focal contact distribution of alpha5beta1 suggests that its engagement by fibrillin-1 may elicit a lesser degree and/or different type of intracellular signaling compared with that seen with a high affinity ligand. ..
  11. Faivre L, Collod Beroud G, Callewaert B, Child A, Loeys B, Binquet C, et al. Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion. Am J Med Genet A. 2009;149A:854-60 pubmed publisher
    Mutations in the FBN1 gene cause Marfan syndrome (MFS) and have been associated with a wide range of milder overlapping phenotypes...
  12. Chung B, Lam S, Tong T, Li S, Lun K, Chan D, et al. Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes. Am J Med Genet A. 2009;149A:1452-9 pubmed publisher
    Marfan syndrome is an autosomal dominant connective tissue disorder, and mutations in the FBN1 and TGFBR2 genes have been identified in probands with MFS and related phenotypes...
  13. Cain S, Baldock C, Gallagher J, Morgan A, Bax D, Weiss A, et al. Fibrillin-1 interactions with heparin. Implications for microfibril and elastic fiber assembly. J Biol Chem. 2005;280:30526-37 pubmed
    ..By regulating these key interactions, heparin can profoundly influence microfibril and elastic fiber assembly. ..
  14. Sengle G, Tsutsui K, Keene D, Tufa S, Carlson E, Charbonneau N, et al. Microenvironmental regulation by fibrillin-1. PLoS Genet. 2012;8:e1002425 pubmed publisher
    ..Mutations in FBN1 are mainly responsible for the Marfan syndrome (MFS), recognized by its pleiotropic clinical features including ..
  15. Khau Van Kien P, Baux D, Pallares Ruiz N, Baudoin C, Plancke A, Chassaing N, et al. Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains. Hum Mutat. 2010;31:E1021-42 pubmed publisher
    ..cases/families referred for Marfan syndrome (MFS) molecular diagnosis, we identified six novel mutations in the FBN1 gene: c.1753G>C (p.Gly585Arg), c.2456G>A (p.Gly819Glu), c.4981G>A (p.Gly1661Arg), c.5339G>A (p...
  16. Sakai H, Visser R, Ikegawa S, Ito E, Numabe H, Watanabe Y, et al. Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes. Am J Med Genet A. 2006;140:1719-25 pubmed
    In order to evaluate the contribution of FBN1, FBN2, TGFBR1, and TGFBR2 mutations to the Marfan syndrome (MFS) phenotype, the four genes were analyzed by direct sequencing in 49 patients with MFS or suspected MFS as a cohort study...
  17. Putnam E, Cho M, Zinn A, Towbin J, Byers P, Milewicz D. Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene. Am J Med Genet. 1996;62:233-42 pubmed
    ..The condition is the result of mutations in FBN1, a large gene composed of 65 exons encoding the fibrillin-1 protein...
  18. Bax D, Bernard S, Lomas A, Morgan A, Humphries J, Shuttleworth C, et al. Cell adhesion to fibrillin-1 molecules and microfibrils is mediated by alpha 5 beta 1 and alpha v beta 3 integrins. J Biol Chem. 2003;278:34605-16 pubmed
  19. Takenouchi T, Hida M, Sakamoto Y, Torii C, Kosaki R, Takahashi T, et al. Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype. Am J Med Genet A. 2013;161A:3057-62 pubmed publisher
    ..e., exon 64, of FBN1, the causative gene for Marfan syndrome...
  20. Marson A, Rock M, Cain S, Freeman L, Morgan A, Mellody K, et al. Homotypic fibrillin-1 interactions in microfibril assembly. J Biol Chem. 2005;280:5013-21 pubmed
    ..Microfibril-associated glycoprotein-1 inhibited N- to C-terminal interactions but not homotypic N-terminal interactions. These fibrillin-1 interactions are likely to regulate pericellular fibrillin-1 microfibril assembly...
  21. Sakai L, Keene D, Engvall E. Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. J Cell Biol. 1986;103:2499-509 pubmed
    ..Electrophoresis of the disulfide bond-reduced protein gave a single band with an estimated molecular mass of 350,000 D. This 350-kD protein appeared to possess intrachain disulfide bonds...
  22. Hao P, Tang X, Song H, Wang L, Wang Y, Ying M, et al. [Screening of FBN1 gene mutations in a family with Marfan syndrome]. Zhonghua Yan Ke Za Zhi. 2010;46:984-8 pubmed
    To identify FBN1 gene mutations in a Chinese family with Marfan syndrome.
  23. Faivre L, Collod Beroud G, Callewaert B, Child A, Binquet C, Gautier E, et al. Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation. Eur J Hum Genet. 2009;17:491-501 pubmed publisher
    Mutations in the FBN1 gene cause Marfan syndrome (MFS) and a wide range of overlapping phenotypes. The severe end of the spectrum is represented by neonatal MFS, the vast majority of probands carrying a mutation within exons 24-32...
  24. Sakai L, Keene D, Glanville R, Bachinger H. Purification and partial characterization of fibrillin, a cysteine-rich structural component of connective tissue microfibrils. J Biol Chem. 1991;266:14763-70 pubmed
    ..Additional ultrastructural immunohistochemical data presented here suggest a model for the parallel, head-to-tail alignment of fibrillin molecules in microfibrils. ..
  25. Dong J, Bu J, Du W, Li Y, Jia Y, Li J, et al. A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family. Mol Vis. 2012;18:81-6 pubmed
    Screening of mutations in the fibrillin-1 (FBN1) gene in a Chinese family with autosomal dominant Marfan syndrome (MFS).
  26. Meng B, Li H, Yang T, Huang S, Sun X, Yuan H. Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome. Mol Vis. 2011;17:2421-7 pubmed
    To identify the mutation in the fibrillin-1 gene (FBN1) in a Chinese family with Marfan syndrome (MFS).
  27. Li D, Yu J, Gu F, Pang X, Ma X, Li R, et al. The roles of two novel FBN1 gene mutations in the genotype-phenotype correlations of Marfan syndrome and ectopia lentis patients with marfanoid habitus. Genet Test. 2008;12:325-30 pubmed publisher
    Mutations in the fibrillin-1 (FBN1) gene have been identified in patients with Marfan syndrome (MFS) and Marfan-like connective tissue disorders. In this study, two Chinese families were recruited...
  28. Biggin A, Holman K, Brett M, Bennetts B, Ades L. Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy. Hum Mutat. 2004;23:99 pubmed
    ..Marfan syndrome (MFS) is a disorder of the extracellular matrix caused by mutations in the gene encoding fibrillin-1 (FBN1). Recent studies have illustrated the variability in disease severity and clinical manifestations of MFS...
  29. Jin C, Yao K, Jiang J, Tang X, Shentu X, Wu R. Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients. Mol Vis. 2007;13:1280-4 pubmed
    To identify mutations in the fibrillin-1 gene (FBN1) and provide further information about genotype-phenotype correlations in Chinese patients with predominant ectopia lentis (EL) and marfanoid habitus.
  30. Hayward C, Rae A, Porteous M, Logie L, Brock D. Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients. Hum Mol Genet. 1994;3:373-5 pubmed
  31. Mellody K, Freeman L, Baldock C, Jowitt T, Siegler V, Raynal B, et al. Marfan syndrome-causing mutations in fibrillin-1 result in gross morphological alterations and highlight the structural importance of the second hybrid domain. J Biol Chem. 2006;281:31854-62 pubmed
    ..The profound effects of all four mutations on fragment conformation suggest that they contribute to the pathogenesis of Marfan syndrome by disrupting protein folding and its assembly into fibrillin-rich microfibrils. ..
  32. Kutz W, Wang L, Bader H, Majors A, Iwata K, Traboulsi E, et al. ADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts. J Biol Chem. 2011;286:17156-67 pubmed publisher
    ..inherited connective tissue disorder, are caused by mutations in ADAMTS10 (encoding a secreted metalloprotease) and FBN1 (encoding fibrillin-1, which forms tissue microfibrils), respectively, yet they are clinically indistinguishable...
  33. Yadin D, Robertson I, McNaught Davis J, Evans P, Stoddart D, Handford P, et al. Structure of the fibrillin-1 N-terminal domains suggests that heparan sulfate regulates the early stages of microfibril assembly. Structure. 2013;21:1743-56 pubmed publisher
    ..These data suggest that heparan sulfate may sequester fibrillin at the cell surface via FUN-EGF3 prior to aggregation of the C terminus, thereby regulating microfibril assembly. ..
  34. Jensen S, Reinhardt D, Gibson M, Weiss A. Protein interaction studies of MAGP-1 with tropoelastin and fibrillin-1. J Biol Chem. 2001;276:39661-6 pubmed
    ..MAGP-1 bound to a region at the N terminus of fibrillin-1 in a calcium-dependent manner. In summary, these results suggest a model for the interaction of elastin with the microfibrillar scaffold. ..
  35. Tiedemann K, Batge B, Muller P, Reinhardt D. Interactions of fibrillin-1 with heparin/heparan sulfate, implications for microfibrillar assembly. J Biol Chem. 2001;276:36035-42 pubmed
    ..These studies suggest that binding of fibrillin-1 to proteoglycan-associated heparan sulfate chains is an important step in the assembly of microfibrils. ..
  36. Kuo C, Isogai Z, Keene D, Hazeki N, Ono R, Sengle G, et al. Effects of fibrillin-1 degradation on microfibril ultrastructure. J Biol Chem. 2007;282:4007-20 pubmed
    ..This model further suggests that the N-terminal half of fibrillin-1 is asymmetrically exposed in the outer filaments, whereas the C-terminal half of fibrillin-1 is present in the interior of the microfibril. ..
  37. Hirani R, Hanssen E, Gibson M. LTBP-2 specifically interacts with the amino-terminal region of fibrillin-1 and competes with LTBP-1 for binding to this microfibrillar protein. Matrix Biol. 2007;26:213-23 pubmed
    ..Overall, the results support the concept that that LTBP-2 may be an indirect negative modulator for storage of the large latent TGF-beta complex on microfibrils in aorta and other fibrillin-rich tissues. ..
  38. Lee S, Knott V, Jovanovic J, Harlos K, Grimes J, Choulier L, et al. Structure of the integrin binding fragment from fibrillin-1 gives new insights into microfibril organization. Structure. 2004;12:717-29 pubmed
    ..In light of our data, we propose a novel model for the assembly of the fibrillin microfibril and a mechanism to explain its extensibility...
  39. van Dijk F, Hamel B, Hilhorst Hofstee Y, Mulder B, Timmermans J, Pals G, et al. Compound-heterozygous Marfan syndrome. Eur J Med Genet. 2009;52:1-5 pubmed publisher
    ..The proband of family 1 has the R2726W FBN1 mutation associated with isolated skeletal features on one allele and a pathogenic FBN1 mutation on the other ..
  40. Katzke S, Booms P, Tiecke F, Palz M, Pletschacher A, Turkmen S, et al. TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. Hum Mutat. 2002;20:197-208 pubmed
    Mutations in the gene for fibrillin-1 (FBN1) cause Marfan syndrome (MFS), an autosomal dominant heritable disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular system...
  41. Stheneur C, Faivre L, Collod Beroud G, Gautier E, Binquet C, Bonithon Kopp C, et al. Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year. Pediatr Res. 2011;69:265-70 pubmed publisher
    ..Probands ascertained via the framework of the Universal Marfan database-FBN1, diagnosed before the age of 1 y and presenting with cardiovascular features (aortic root dilatation or valvular ..
  42. Wirtz M, Samples J, Kramer P, Rust K, Yount J, Acott T, et al. Weill-Marchesani syndrome--possible linkage of the autosomal dominant form to 15q21.1. Am J Med Genet. 1996;65:68-75 pubmed
    ..1, are candidate genes for Weill-Marchesani syndrome. Immunohistochemistry staining of skin sections from family 1 showed an apparent decrease in fibrillin staining compared to control individuals. ..
  43. Francke U, Berg M, Tynan K, Brenn T, Liu W, Aoyama T, et al. A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. Am J Hum Genet. 1995;56:1287-96 pubmed
    ..Single-strand conformation analysis of the entire fibrillin-1 (FBN1) cDNA of an affected family member revealed a G-to-A transition at nucleotide 3379, predicting a Gly1127Ser ..
  44. Milewicz D, Grossfield J, Cao S, Kielty C, Covitz W, Jewett T. A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome. J Clin Invest. 1995;95:2373-8 pubmed
    ..Sequencing of the FBN1 gene revealed a heterozygous C to T transition at nucleotide 8176 resulting in the substitution of a tryptophan for ..
  45. Hubmacher D, El Hallous E, Nelea V, Kaartinen M, Lee E, Reinhardt D. Biogenesis of extracellular microfibrils: Multimerization of the fibrillin-1 C terminus into bead-like structures enables self-assembly. Proc Natl Acad Sci U S A. 2008;105:6548-53 pubmed publisher
  46. Comeglio P, Johnson P, Arno G, Brice G, Evans A, Aragon Martin J, et al. The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. Hum Mutat. 2007;28:928 pubmed
    Mutations in the FBN1 gene have been characterised in patients affected by Marfan syndrome and Marfan-related disorders...
  47. Saito M, Kurokawa M, Oda M, Oshima M, Tsutsui K, Kosaka K, et al. ADAMTSL6? protein rescues fibrillin-1 microfibril disorder in a Marfan syndrome mouse model through the promotion of fibrillin-1 assembly. J Biol Chem. 2011;286:38602-13 pubmed publisher
    ..These findings also suggest a new therapeutic strategy for the treatment of MFS through ADAMTSL6?-mediated fibrillin-1 microfibril assembly. ..
  48. Micheal S, Khan M, Akhtar F, Weiss M, Islam F, Ali M, et al. Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome. Mol Vis. 2012;18:1918-26 pubmed
    To describe a novel mutation in the fibrillin-1 (FBN1) gene in a large Pakistani family with autosomal dominant Marfan syndrome (MFS).
  49. Dietz H, Saraiva J, Pyeritz R, Cutting G, Francomano C. Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains. Hum Mutat. 1992;1:366-74 pubmed
    ..The gene on chromosome 15 encoding fibrillin (FBN1), a 350-kDa glycoprotein component of the extracellular microfibril, is the site of defect in most, if not all ..
  50. Buchan J, Alvarado D, Haller G, Cruchaga C, Harms M, Zhang T, et al. Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis. Hum Mol Genet. 2014;23:5271-82 pubmed publisher
    ..In a genome-wide rare variant burden analysis using exome sequence data, we identified fibrillin-1 (FBN1) as the most significantly associated gene with AIS...
  51. Zhang H, Apfelroth S, Hu W, Davis E, Sanguineti C, Bonadio J, et al. Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices. J Cell Biol. 1994;124:855-63 pubmed
    During the previous cloning of the fibrillin gene (FBN1), we isolated a partial cDNA coding for a fibrillin-like peptide and mapped the corresponding gene (FBN2) to human chromosome 5. (Lee, B., M. Godfrey, E. Vitale, H. Hori, M. G...
  52. Charbonneau N, Dzamba B, Ono R, Keene D, Corson G, Reinhardt D, et al. Fibrillins can co-assemble in fibrils, but fibrillin fibril composition displays cell-specific differences. J Biol Chem. 2003;278:2740-9 pubmed
    ..This surprising finding implicates distinct functions for fibrillin-2 in peripheral nerves, because a unique feature in humans and in mice mutant for fibrillin-2 is joint contractures that resolve over time. ..
  53. Whiteman P, Handford P. Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders. Hum Mol Genet. 2003;12:727-37 pubmed
    ..Mutations in the fibrillin-1 gene (FBN1) cause Marfan syndrome and related connective tissue disorders (fibrillinopathies) that show autosomal dominant ..
  54. Yuan X, Downing A, Knott V, Handford P. Solution structure of the transforming growth factor beta-binding protein-like module, a domain associated with matrix fibrils. EMBO J. 1997;16:6659-66 pubmed
    ..Modelling of a homologous TB domain from LTBP-1 (residues 1018-1080) suggests that hydrophobic contacts may play a role in its interaction with the TGF-beta1 latency-associated peptide. ..
  55. Ades L, Holman K, Brett M, Edwards M, Bennetts B. Ectopia lentis phenotypes and the FBN1 gene. Am J Med Genet A. 2004;126A:284-9 pubmed
    ..gene on chromosome 15 have been described in patients with classical Marfan syndrome (MFS), neonatal MFS, the "MASS" phenotype, autosomal dominant ascending aortic aneurysms, autosomal dominant ectopia lentis (EL), Marfanoid ..
  56. Hayward C, Porteous M, Brock D. Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations. Hum Mutat. 1997;10:280-9 pubmed
    ..Twelve of the 17 disease-causing mutations identified have not been previously described, thus raising the total number of different fibrillin-1 mutations reported to 85 in 94 unrelated cases. ..
  57. Uyeda T, Takahashi T, Eto S, Sato T, Xu G, Kanezaki R, et al. Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients. J Hum Genet. 2004;49:404-7 pubmed
    ..Allelic variations in the gene for fibrillin-1 ( FBN1) have been shown to cause MFS...
  58. Hewett D, Lynch J, Child A, Sykes B. A new missense mutation of fibrillin in a patient with Marfan syndrome. J Med Genet. 1994;31:338-9 pubmed
    ..A patient with Marfan syndrome was shown to be heterozygous for a G to A transition at nucleotide 3952 of the FBNI gene. This would result in a cysteine to tyrosine substitution at amino acid 1223 in the fibrillin protein. ..
  59. Nijbroek G, Sood S, McIntosh I, Francomano C, Bull E, Pereira L, et al. Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. Am J Hum Genet. 1995;57:8-21 pubmed
    Mutations in the gene encoding fibrillin-1 (FBN1), a component of the extracellular microfibril, cause the Marfan syndrome (MFS)...
  60. Clarke A, Wise S, Cain S, Kielty C, Weiss A. Coacervation is promoted by molecular interactions between the PF2 segment of fibrillin-1 and the domain 4 region of tropoelastin. Biochemistry. 2005;44:10271-81 pubmed
    ..and domain 16 of fibrillin-1 were discovered through a novel combination of transglutaminase cross-linking and mass spectroscopy, with contact sites at residues K38 of tropoelastin and Q669 of fibrillin-1...
  61. Yu R, Lai Z, Zhou W, Ti D, Zhang X. Recurrent FBN1 mutation (R62C) in a Chinese family with isolated ectopia lentis. Am J Ophthalmol. 2006;141:1136-8 pubmed
    To examine the fibrillin-1 (FBN1) gene for mutations in members of a Chinese family with isolated ectopia lentis.
  62. Zhao F, Pan X, Zhao K, Zhao C. Two novel mutations of fibrillin-1 gene correlate with different phenotypes of Marfan syndrome in Chinese families. Mol Vis. 2013;19:751-8 pubmed
    ..To identify the causative mutations in two Chinese families with autosomal dominant Marfan syndrome and to describe the associated phenotypes...
  63. Magenis R, Maslen C, Smith L, Allen L, Sakai L. Localization of the fibrillin (FBN) gene to chromosome 15, band q21.1. Genomics. 1991;11:346-51 pubmed
    Fibrillin (FBN), a large extracellular matrix glycoprotein, is an important component of structures called microfibrils...
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    We describe here the identification of defined mutations in both alleles of the fibrillin gene (FBN1) in a compound-heterozygote Marfan syndrome (MFS) child who had a very severe form of MFS resulting in death from cardiac failure at the ..
  66. Loeys B, Nuytinck L, Delvaux I, De Bie S, De Paepe A. Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. Arch Intern Med. 2001;161:2447-54 pubmed
    ..is an underrecognized heritable connective tissue disorder resulting from mutations in the gene for fibrillin-1 (FBN1). Affected patients are at risk for aortic dissection and/or severe ocular and orthopedic problems...
  67. El Hallous E, Sasaki T, Hubmacher D, Getie M, Tiedemann K, Brinckmann J, et al. Fibrillin-1 interactions with fibulins depend on the first hybrid domain and provide an adaptor function to tropoelastin. J Biol Chem. 2007;282:8935-46 pubmed
    ..Formation of ternary complexes between fibrillin-1, fibulins, and tropoelastin demonstrated that fibulin-2 and -5 but much less fibulin-4, are able to act as molecular adaptors between fibrillin-1 and tropoelastin. ..
  68. Robinson P, Booms P, Katzke S, Ladewig M, Neumann L, Palz M, et al. Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Hum Mutat. 2002;20:153-61 pubmed
    ..Mutations in the gene for fibrillin-1 (FBN1) cause MFS, and at least 337 mainly unique mutations have been published to date...
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    ..This conclusion was further strengthened by double immunofluorescence labeling of microfibrils. In addition, the binding epitopes as well as the entire fibrillin molecules displayed very stable properties. ..
  70. Nonaka R, Onoue S, Wachi H, Sato F, Urban Z, Starcher B, et al. DANCE/fibulin-5 promotes elastic fiber formation in a tropoelastin isoform-dependent manner. Clin Biochem. 2009;42:713-21 pubmed publisher
    ..These data provide new insights into the initial steps of elastic fiber assembly and identify fibulin-5 and tropoelastin isoforms as potential targets for the regeneration of elastic fibers in vivo. ..
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    Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterised by short stature, brachydactyly, joint stiffness, and characteristic eye anomalies including microspherophakia, ectopia of the lenses, severe myopia, and ..
  72. Rand Hendriksen S, Tjeldhorn L, Lundby R, Semb S, Offstad J, Andersen K, et al. Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome. Am J Med Genet A. 2007;143A:1968-77 pubmed
    ..MFS) is known as a monogenic disorder, according to the present diagnostic criteria a mutation in the gene FBN1 is not sufficient for the diagnosis, which also depends on the presence of a number of clinical, radiological, and ..
  73. Arbustini E, Grasso M, Ansaldi S, Malattia C, Pilotto A, Porcu E, et al. Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies. Hum Mutat. 2005;26:494 pubmed
    ..Syndrome (MFS) is an autosomal dominant disorder of the connective tissue due to mutations of Fibrillin-1 gene (FBN1) in more than 90% of cases and Transforming Growth Factor-Beta-Receptor2 gene (TGFB2R) in a minority of cases...
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    It has been firmly established that mutations in the gene for fibrillin 1, FBN1, cause Marfan syndrome (MFS)...
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    b>FBN1 mutations cause Marfan syndrome (MFS), an autosomal dominant disorder of connective tissue...
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    ..These data highlight how heparin/heparan sulfate controls fibrillin-1 interactions. ..
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    ..In addition, these data provide the first direct experimental evidence that Ca2+ plays a major role in defining the interdomain linkage in multiple repeats of Ca2+ binding EGF-like domains. ..
  79. Attanasio M, Lapini I, Evangelisti L, Lucarini L, Giusti B, Porciani M, et al. FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations. Clin Genet. 2008;74:39-46 pubmed publisher
    Fibrillin-1 gene (FBN1) mutations cause Marfan syndrome (MFS), an inherited connective tissue disorder with autosomal dominant transmission...
  80. Lönnqvist L, Child A, Kainulainen K, Davidson R, Puhakka L, Peltonen L. A novel mutation of the fibrillin gene causing ectopia lentis. Genomics. 1994;19:573-6 pubmed
    ..inherited connective tissue disorder, has been genetically linked to the fibrillin gene on chromosome 15 (FBN1) in earlier studies...
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    ..These data implicate the fibrillin microfibril network in the extracellular control of BMP signaling and demonstrate differences in how prodomains target their growth factors to the extracellular space. ..
  82. Judge D, Biery N, Keene D, Geubtner J, Myers L, Huso D, et al. Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome. J Clin Invest. 2004;114:172-81 pubmed
    Marfan syndrome is a connective tissue disorder caused by mutations in the gene encoding fibrillin-1 (FBN1)...
  83. Faivre L, Collod Beroud G, Loeys B, Child A, Binquet C, Gautier E, et al. 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;81:454-66 pubmed
    Mutations in the fibrillin-1 (FBN1) gene cause Marfan syndrome (MFS) and have been associated with a wide range of overlapping phenotypes...
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    ..b>FBN1 at 15q21.1 was found to cause Marfan syndrome in 1991, and in 2004 TGFBR2 at 3p24...
  85. Lee B, Godfrey M, Vitale E, Hori H, Mattei M, Sarfarazi M, et al. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature. 1991;352:330-4 pubmed
    ..Thus, the cosegregation of two related genes with two related syndromes implies that fibrillin mutations are likely to be responsible for different MFS phenotypes. ..