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 fibrillinopathy

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 o...

Full description

Saved in:

Bibliographic Details
Published in:	American journal of medical genetics. Part A Vol. 149A; no. 2; pp. 161 - 170
Main Authors:	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., Foulds, N.C.
Format:	Journal Article
Language:	English
Published:	Hoboken Wiley Subscription Services, Inc., A Wiley Company 01-02-2009 Wiley-Liss
Subjects:	Adolescent Adult Biological and medical sciences Child Child, Preschool Connective Tissue Diseases DNA Mutational Analysis Ectopia Lentis FBN1 Female Fibrillin-1 Fibrillins Genotype genotype-phenotype correlation Humans Male Marfan syndrome Marfan Syndrome - genetics Medical genetics Medical sciences Microfilament Proteins - genetics Middle Aged Mutation Phenotype Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis Young Adult Connective tissue disease Skin disease Correlation Relapse Typing Elastic tissue disease Genotype Recurrent Marfan syndrome Genetic disease Phenotype Systemic disease FBNI Mutation Detection genotype-phenolype correlation
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	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). © 2009 Wiley‐Liss, Inc.
Bibliography:	ark:/67375/WNG-SRWWPT0F-S istex:606633FCD30A74FF7E1B29E6B44E442609A4F804 How to cite this article: Turner CLS, Emery H, Collins AL, Howarth RJ, Yearwood CM, Cross E, Duncan PJ, Bunyan DJ, Harvey JF, Foulds NC. 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 fibrillinopathy. Am J Med Genet Part A 149A:161-170. ArticleID:AJMG32593 How to cite this article: Turner CLS, Emery H, Collins AL, Howarth RJ, Yearwood CM, Cross E, Duncan PJ, Bunyan DJ, Harvey JF, Foulds NC. 2009. Detection of 53 mutations (41 novel and 12 recurrent) and genotype–phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy. Am J Med Genet Part A 149A:161–170. FBN1 ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	1552-4825 1552-4833
DOI:	10.1002/ajmg.a.32593