Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus
- PMID: 12446365
- PMCID: PMC1771443
- DOI: 10.1136/bjo.86.12.1359
Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus
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.
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References
-
- 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
-
- 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
-
- 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
-
- 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
-
- 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
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