Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with marfan syndrome or a related fbrillinopathy
Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with marfan syndrome or a related fbrillinopathy
Mutations in the gene encoding fibrillin 1 (FBN1) cause Marfan syndrome (MFS), and related connective tissue disorders. The disease spectrum is wide and while many genotype-phenotype correlations have been reported, few have been consistent. In this study FBN1 was analyzed in 113 patients with MFS or Marfan-like features. Fifty-three mutations were identified in 52 individuals, 41 of which were novel. The mutations comprised 26 missense, 11 splice site, 7 frameshift, 6 nonsense, 1 in-frame deletion, and 2 whole exon deletions. In common with previous studies, genotype-phenotype analysis showed that a FBN1 mutation was more likely to be identified in patients fulfilling Ghent criteria (P = 0.005) and in those who had ectopia lentis (EL) (P < 0.0001). Other previously reported genotype-phenotype correlations were also considered and a new inverse association between a mutation in exons 59-65, and EL emerged (P = 0.002)
FBN1, marfan syndrome, genotype-phenotype correlation
161-170
Turner, C.L.S.
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Emery, H.
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Collins, A.L.
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Howarth, R.J.
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Yearwood, C.M.
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Cross, E.
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Duncan, P.J.
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Bunyan, D.J.
41347b93-e79b-4026-93f9-dd1004cfa05e
Harvey, J.F.
587c3d67-fe7c-4601-b5b8-60600ca39a63
Foulds, N.C.
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January 2009
Turner, C.L.S.
2bbfb7e9-db26-4ff5-a1e1-bc19f21c53a8
Emery, H.
92bb60f1-5657-4e5c-98d9-5dfc61a89a6b
Collins, A.L.
eb72a479-2336-4268-a837-79d926239de3
Howarth, R.J.
e88467a8-0195-4b4c-b096-df846a52d252
Yearwood, C.M.
e352cbdf-ab6b-4830-ab41-faab6110e6d4
Cross, E.
e6fa30f2-f1b1-4f3f-8dd8-0497d9bde386
Duncan, P.J.
4575f549-3a20-4895-b6c9-78e833f3f7b4
Bunyan, D.J.
41347b93-e79b-4026-93f9-dd1004cfa05e
Harvey, J.F.
587c3d67-fe7c-4601-b5b8-60600ca39a63
Foulds, N.C.
5e153e9f-caae-45f5-b6f0-943bd567558e
Turner, C.L.S., Emery, H., Collins, A.L., Howarth, R.J., Yearwood, C.M., Cross, E., Duncan, P.J., Bunyan, D.J., Harvey, J.F. and Foulds, N.C.
(2009)
Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with marfan syndrome or a related fbrillinopathy.
American Journal of Medical Genetics part A, 149A (2), .
(doi:10.1002/ajmg.a.32593).
Abstract
Mutations in the gene encoding fibrillin 1 (FBN1) cause Marfan syndrome (MFS), and related connective tissue disorders. The disease spectrum is wide and while many genotype-phenotype correlations have been reported, few have been consistent. In this study FBN1 was analyzed in 113 patients with MFS or Marfan-like features. Fifty-three mutations were identified in 52 individuals, 41 of which were novel. The mutations comprised 26 missense, 11 splice site, 7 frameshift, 6 nonsense, 1 in-frame deletion, and 2 whole exon deletions. In common with previous studies, genotype-phenotype analysis showed that a FBN1 mutation was more likely to be identified in patients fulfilling Ghent criteria (P = 0.005) and in those who had ectopia lentis (EL) (P < 0.0001). Other previously reported genotype-phenotype correlations were also considered and a new inverse association between a mutation in exons 59-65, and EL emerged (P = 0.002)
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Published date: January 2009
Keywords:
FBN1, marfan syndrome, genotype-phenotype correlation
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Local EPrints ID: 72750
URI: http://eprints.soton.ac.uk/id/eprint/72750
ISSN: 1552-4825
PURE UUID: 2d4cbdb5-92a4-4de1-a70e-f63f53a2bfa6
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Date deposited: 23 Feb 2010
Last modified: 13 Mar 2024 21:40
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Contributors
Author:
C.L.S. Turner
Author:
H. Emery
Author:
A.L. Collins
Author:
R.J. Howarth
Author:
C.M. Yearwood
Author:
E. Cross
Author:
P.J. Duncan
Author:
D.J. Bunyan
Author:
J.F. Harvey
Author:
N.C. Foulds
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