ArticleMolecular vision2012
Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome.
Article in Molecular vision, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- A novel missense variant ofFrontiers in pediatrics · 2025Article
- Article
- Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders.International journal of ophthalmology · 2018Review
- Association between SCO2 mutation and extreme myopia in Japanese patients.Japanese journal of ophthalmology · 2016Article
- Extracellular matrix in the trabecular meshwork: intraocular pressure regulation and dysregulation in glaucoma.Experimental eye research · 2015Review
- A novel FBN1 missense mutation (p.C102Y) associated with ectopia lentis syndrome in a Chinese family.International journal of ophthalmology · 2015Article
- A novel mutation in fibrillin-1 gene identified in a Chinese family with marfan syndrome.International journal of clinical and experimental medicine · 2015Article
- Novel mutation in FBN1 causes ectopia lentis and varicose great saphenous vein in one Chinese autosomal dominant family.Molecular vision · 2014Article
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Authors and funding
9 authors.
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Abstract
purposeTo describe a novel mutation in the fibrillin-1 (FBN1) gene in a large Pakistani family with autosomal dominant Marfan syndrome (MFS).
methodsBlood samples were collected of 11 family members affected with Marfan syndrome, and DNA was isolated by phenol-extraction. The coding exons of FBN1 were analyzed by polymerase chain reaction (PCR) and direct sequencing. One hundred-thirty controls were screened for a mutation in the FBN1 gene that was identified in this family by restriction fragment length polymorphism (RFLP) analysis.
resultsA novel heterozygous missense mutation c.2368T>A; p.Cys790Ser was observed in exon 19. This mutation substitutes a highly conserved cysteine residue by serine in a calcium binding epidermal growth factor-like domain (cbEGF) of FBN1. This mutation was present in all affected members and absent from unaffected individuals of the family in addition to 130 healthy Pakistani controls. Interestingly all affected family members presented with ectopia lentis, myopia and glaucoma, but lacked the cardinal cardiovascular features of MFS.
conclusionsThis is a first report of a mutation in FBN1 in MFS patients of Pakistani origin. The identification of a FBN1 mutation in this family confirms the diagnosis of MFS patients and expands the worldwide spectrum of FBN1 mutations.
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22876116PMC3413445What OpenQuestion holds
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