The FBN1 polymorphisms database


Ref. #
Medline Access number
Reference
1
1762940
Hewett DR, Lynch JR, Godfrey M, Sykes BC. G/A polymorphism in an intron of the fibrillin gene FBNI. Nucleic Acids Research 1991, 19, 6975
2
1569206
Dietz HC, Pyeritz RE, Puffenberger EG, Kendzior RJ Jr, Corson GM, Maslen CL, Sakai LY, Francomano CA, Cutting GR. Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. J Clin Invest 1992 May;89(5):1674-80
3
10189222
Perez AB, Pereira LV, Brunoni D, Zatz M, Passos-Bueno MR. Identification of 8 new mutations in Brazilian families with Marfan syndrome. Mutations in brief no. 211. Online. Hum Mutat 1999;13(1):84
4
9338581
Hayward C, Porteous ME, Brock DJ. 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(4):280-9
5
8430317
Dietz HC, Valle D, Francomano CA, Kendzior RJ Jr, Pyeritz RE, Cutting GR. The skipping of constitutive exons in vivo induced by nonsense mutations. Science 1993 Jan 29;259(5095):680-3
6
9241263
Liu W, Qian C, Francke U. Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome. Nat Genet 1997 Aug;16(4):328-9
7
8281141
Tynan K, Comeau K, Pearson M, Wilgenbus P, Levitt D, Gasner C, Berg MA, Miller DC, Francke U. Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains. Hum Mol Genet 1993 Nov;2(11):1813-21
8
7611299
Nijbroek G, Sood S, McIntosh I, Francomano CA, Bull E, Pereira L, Ramirez F, Pyeritz RE, Dietz HC. Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. Am J Hum Genet 1995 Jul;57(1):8-21
9
9401003
Hayward C, Brock DJ. Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies. Hum Mutat 1997;10(6):415-23
10
10464652
Liu WO, Oefner PJ, Qian C, Odom RS, Francke U. Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders. Genet Test 1997-98;1(4):237-42
11
11139245
Matsukawa R, Iida K, Nakayama M, Mukai T, Okita Y, Ando M, Takamoto S, Nakajima N, Morisaki H, Morisaki T. Eight novel mutations of the FBN1 gene found in japanese patients with marfan syndrome. Hum Mutat 2001;17(1):71-2
12
10647894
Halliday D, Hutchinson S, Kettle S, Firth H, Wordsworth P, Handford PA. Molecular analysis of eight mutations in FBN1. Hum Genet 1999 Dec;105(6):587-97
13
10874320
Youil R, Toner TJ, Bull E, Bailey AL, Earl CD, Dietz HC, Montgomery RA. Enzymatic mutation detection (EMD) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII. Hum Mutat 2000 Jul;16(1):92-3
14
12161601
Halliday DJ, Hutchinson S, Lonie L, Hurst JA, Firth H, Handford PA, Wordsworth P. Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice. J Med Genet 2002, 39: 589-593.
15
12203992
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. TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. Hum Mutat. 2002 Sep;20(3):197-208.
16
11700157
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 Nov 12;161(20):2447-54.
17
11933199
Matyas G, De Paepe A, Halliday D, Boileau C, Pals G, Steinmann B. Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene. Hum Mutat. 2002,19:443-56.
18
10533071
Yuan B, Thomas JP, von Kodolitsch Y, Pyeritz RE. Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1. Hum Mutat 1999;14(5):440-6
19
Collod-Beroud et al. (In preparation)
20
12402346
Rommel K, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M. Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations. Hum Mutat. 2002 Nov;20(5):406-7.
21
12446365
Comeglio P, Evans AL, Brice G, Cooling RJ, Child AH. Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus. Br J Ophthalmol. 2002 Dec;86(12):1359-62.