Juvenile idiopathic arthritis, mitral valve prolapse and a familial variant involving the integrin-binding fragment of FBN1

American Journal of Medical Genetics, Part A

Volumn 161, Issue 8, 2013, Pages 2047-2051

  Wilson, Brian T ^a,b   Jensen, Sacha A ^c   Mcanulty, Ciaron P ^b   Brennan, Paul ^b   Handford, Penny A ^c  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^c UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Fibrillin 1; Juvenile idiopathic arthritis; Marfan syndrome; Mitral valve prolapse

Indexed keywords

FIBRILLIN 1; VITRONECTIN RECEPTOR;

ADOLESCENT; ADULT; ARTICLE; BACTERIAL ENDOCARDITIS; CASE REPORT; COMPLEX FORMATION; DIFFERENTIAL DIAGNOSIS; FAMILY STUDY; FEMALE; GENE STRUCTURE; GENETIC ASSOCIATION; GENETIC CONSERVATION; GENETIC VARIABILITY; HEART MURMUR; HUMAN; JUVENILE RHEUMATOID ARTHRITIS; MALE; MARFAN SYNDROME; MISSENSE MUTATION; MITRAL VALVE PROLAPSE; MITRAL VALVE REGURGITATION; MITRAL VALVE REPAIR; ONSET AGE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; RAYNAUD PHENOMENON;

FIBRILLIN 1; JUVENILE IDIOPATHIC ARTHRITIS; MARFAN SYNDROME; MITRAL VALVE PROLAPSE;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ARTHRITIS, JUVENILE; FEMALE; HUMANS; INTEGRINS; MALE; MICROFILAMENT PROTEINS; MITRAL VALVE PROLAPSE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; PROTEIN CONFORMATION; SEQUENCE HOMOLOGY, AMINO ACID; YOUNG ADULT;

EID: 84880724959     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36011     Document Type: Article

References (13)

1. Booms P, Pregla R, Ney A, Barthel F, Reinhardt DP, Pletschacher A, Mundlos S, Robinson PN. 2005. RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: a potential factor in the pathogenesis of the Marfan syndrome. Hum Genet 116:51-61.
2. Chen Y, Nixon NB, Dawes PT, Mattey DL. 2012. Influence of variations across the MMP-1 and -3 genes on the serum levels of MMP-1 and -3 and disease activity in rheumatoid arthritis. Genes Immun 13:29-37.
3. Daubeney PE, Blackstone EH, Weintraub RG, Slavik Z, Scanlon J, Webber SA. 1999. Relationship of the dimension of cardiac structures to body size: An echocardiographic study in normal infants and children. Cardiol Young 9:402-410.
4. Eswar N, Webb B, Marti-Renom MA, Madhusudhan MS, Eramian D, Shen MY, Pieper U, Sali A. 2007. Comparative protein structure modeling using MODELLER. Curr Protoc Protein Sci chapter 2:Unit 2.9.
5. Katzke S, Booms P, Tiecke F, Palz M, Pletschacher A, Turkmen S, Neumann LM, Pregla R, Leitner C, Schramm C, Lorenz P, Hagemeier C, Fuchs J, Skovby F, Rosenberg T, Robinson PN. 2002. TGGE screening of the entire FBN1 coding sequence in 126 individuals with Marfan syndrome and related fibrillinopathies. Hum Mutat 20:197-208.
6. Lee SSJ, Knott V, Jovanovic J, Harlos K, Grimes JM, Choulier L, Mardon HJ, Stuart DI, Handford PA. 2004. Structure of the integrin binding fragment from Fibrillin-1 gives new insights into microfibril organisation. Structure 12:717-729.
7. 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, Genevieve D, Kiper POS, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Megarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Tpouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanove J-L, Boileau C, Apte SS, Munnich A, Cormier-Daire V. 2011. Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet 89:7-14.
8. Lide DR, (Ed.). 2010. CRC Handbook of chemistry and physics, 91st edition. Boca Raton: CRC Press.
9. Liu WO, Oefner PJ, Qian C, Odom RS, Francke U. 1997. Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders. Genet Test 1:237-242.
10. Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM. 2010a. The revised Ghent nosology for the Marfan syndrome. J Med Genet 47:476-485.
11. 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. 2010b. Mutations in Fibrillin-1 cause congenital scleroderma: Stiff skin syndrome. Sci Transl Med 2:23ra20.
12. Sarma PK, Misra R, Aggarwal A. 2008. Elevated serum receptor activator of NFkappaB ligand (RANKL), osteoprotegerin (OPG), matrix metalloproteinase (MMP)3, and ProMMP1 in patients with juvenile idiopathic arthritis. Clin Rheumatol 27:289-294.
13. Söylen B, Singh KK, Abuzainin A, Rommel K, Becker H, Arslan-Kirchner M, Schmidtke J. 2009. Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations. Clin Genet 75:265-270.