Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2002 Dec;86(12):1359-62.
doi: 10.1136/bjo.86.12.1359.

Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus

Affiliations

Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus

P Comeglio et al. Br J Ophthalmol. 2002 Dec.

Abstract

Background: Marfan syndrome (MFS), inherited as an autosomal dominant trait, typically affects the cardiovascular, skeletal, and ocular systems. Ectopia lentis (EL) is a clinical manifestation of MFS, with stretching or disruption of the lenticular zonular filaments, leading to displacement of the lenses. EL, with or without minor skeletal changes, exists as an independent autosomal dominant phenotype linked to the same FBN1 locus.

Methods: A consecutive series of 11 patients, affected predominantly by EL, was analysed for FBN1 mutations using PCR, SSCA, and sequencing.

Results: Six mutations were identified, of which three are novel and one is recurrent in two patients, thus establishing a mutation incidence in this group of 7/11 (63%).

Conclusion: The FBN1 variants reported are clustered in the first 15 exons of the gene, while FBN1 mutations reported in the literature are distributed throughout the entire length of the gene. A different type of FBN1 mutation presents in this group of patients, compared with MFS, with arginine to cysteine substitutions appearing frequently.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Schematic representation of the FBN1 mutations distribution. At the top are the FBN1 mutations reported in the Marfan database, while at the bottom are indicated the mutations identified in this study. The first 15 exons of the gene, encoding for the N-terminal domains of the fibrillin-1 protein, are highlighted in dark grey, with the others represented in light grey. The exons are numbered from 1 to 65.

References

    1. Dietz HC, Pyeritz RE. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum Mol Genet 1995;4:1799–809. - PubMed
    1. Tsipouras P, Del Mastro R, Sarfarazi M, et al. Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. N Engl J Med 1992;326:905–9. - PubMed
    1. De Paepe A, Devereux RB, Dietz HC, et al. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996;62:417–26. - PubMed
    1. Lee B, Godfrey M, Vitale E, et al. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature 1991;352:330–4. - PubMed
    1. Pereira L, D’Alessio M, Ramirez F, et al. Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome. (Erratum: Hum Mol Genet 1993;2:1762). Hum Mol Genet 1993;2:961–8. - PubMed