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Li, V. FBN1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5515 (accessed on 21 September 2026).
Li V. FBN1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5515. Accessed September 21, 2026.
Li, Vivi. "FBN1 Gene" Encyclopedia, https://encyclopedia.pub/entry/5515 (accessed September 21, 2026).
Li, V. (2020, December 25). FBN1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5515
Li, Vivi. "FBN1 Gene." Encyclopedia. Web. 25 December, 2020.
FBN1 Gene
Edit

Fibrillin 1: The FBN1 gene provides instructions for making a large protein called fibrillin-1. 

genes

References

  1. Adès LC, Sullivan K, Biggin A, Haan EA, Brett M, Holman KJ, Dixon J, RobertsonS, Holmes AD, Rogers J, Bennetts B. FBN1, TGFBR1, and theMarfan-craniosynostosis/mental retardation disorders revisited. Am J Med Genet A.2006 May 15;140(10):1047-58.
  2. Arbustini E, Grasso M, Ansaldi S, Malattia C, Pilotto A, Porcu E, Disabella E,Marziliano N, Pisani A, Lanzarini L, Mannarino S, Larizza D, Mosconi M,Antoniazzi E, Zoia MC, Meloni G, Magrassi L, Brega A, Bedeschi MF, Torrente I,Mari F, Tavazzi L. Identification of sixty-two novel and twelve known FBN1mutations in eighty-one unrelated probands with Marfan syndrome and otherfibrillinopathies. Hum Mutat. 2005 Nov;26(5):494.
  3. Brautbar A, LeMaire SA, Franco LM, Coselli JS, Milewicz DM, Belmont JW. FBN1mutations in patients with descending thoracic aortic dissections. Am J Med GenetA. 2010 Feb;152A(2):413-6. doi: 10.1002/ajmg.a.32856.
  4. Chandra A, Patel D, Aragon-Martin JA, Pinard A, Collod-Béroud G, Comeglio P,Boileau C, Faivre L, Charteris D, Child AH, Arno G. The revised ghent nosology;reclassifying isolated ectopia lentis. Clin Genet. 2015 Mar;87(3):284-7. doi:10.1111/cge.12358.
  5. Collod-Béroud G, Boileau C. Marfan syndrome in the third Millennium. Eur J HumGenet. 2002 Nov;10(11):673-81. Review.
  6. Dietz HC, McIntosh I, Sakai LY, Corson GM, Chalberg SC, Pyeritz RE, FrancomanoCA. Four novel FBN1 mutations: significance for mutant transcript level andEGF-like domain calcium binding in the pathogenesis of Marfan syndrome. Genomics.1993 Aug;17(2):468-75.
  7. Faivre L, Collod-Beroud G, Callewaert B, Child A, Loeys BL, Binquet C, GautierE, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M,Beroud C, Bonithon-Kopp C, Claustres M, Stheneur C, Bouchot O, Wolf JE, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G.Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus onpatients with an isolated major criterion. Am J Med Genet A. 2009May;149A(5):854-60. doi: 10.1002/ajmg.a.32809.
  8. Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, CallewaertB, 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, Adès LC, Biggin A, Benetts B, Brett M, Holman KJ, DeBacker J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C. Effect ofmutation type and location on clinical outcome in 1,013 probands with Marfansyndrome or related phenotypes and FBN1 mutations: an international study. Am JHum Genet. 2007 Sep;81(3):454-66.
  9. Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR, Le Merrer M,Collod-Beroud G, Boileau C, Munnich A, Cormier-Daire V. In frame fibrillin-1 genedeletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet. 2003Jan;40(1):34-6.
  10. Glesby MJ, Pyeritz RE. Association of mitral valve prolapse and systemicabnormalities of connective tissue. A phenotypic continuum. JAMA. 1989 Jul28;262(4):523-8.
  11. Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L,Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, GenevieveD, Kiper PÖ, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Mégarbane A, Mortier G,Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A,Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P,Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V. Mutations in theTGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric andgeleophysic dysplasias. Am J Hum Genet. 2011 Jul 15;89(1):7-14. doi:10.1016/j.ajhg.2011.05.012.
  12. Loeys BL, Gerber EE, Riegert-Johnson D, Iqbal S, Whiteman P, McConnell V,Chillakuri CR, Macaya D, Coucke PJ, De Paepe A, Judge DP, Wigley F, Davis EC,Mardon HJ, Handford P, Keene DR, Sakai LY, Dietz HC. Mutations in fibrillin-1cause congenital scleroderma: stiff skin syndrome. Sci Transl Med. 2010 Mar17;2(23):23ra20. doi: 10.1126/scitranslmed.3000488.
  13. Mizuguchi T, Matsumoto N. Recent progress in genetics of Marfan syndrome andMarfan-associated disorders. J Hum Genet. 2007;52(1):1-12. doi:10.1007/s10038-006-0078-1.
  14. Robinson PN, Arteaga-Solis E, Baldock C, Collod-Béroud G, Booms P, De Paepe A,Dietz HC, Guo G, Handford PA, Judge DP, Kielty CM, Loeys B, Milewicz DM, Ney A,Ramirez F, Reinhardt DP, Tiedemann K, Whiteman P, Godfrey M. The moleculargenetics of Marfan syndrome and related disorders. J Med Genet. 2006Oct;43(10):769-87.
  15. Rommel K, Karck M, Haverich A, von Kodolitsch Y, Rybczynski M, Müller G, SinghKK, Schmidtke J, Arslan-Kirchner M. Identification of 29 novel and nine recurrentfibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patientswith Marfan syndrome. Hum Mutat. 2005 Dec;26(6):529-39.
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