ArticleMolecular vision2015
C596G mutation in FBN1 causes Marfan syndrome with exotropia in a Chinese family.
Article in Molecular vision, 2015. 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, 12 citations in OpenAlex.
- Genetic mutation and aqueous humor metabolites alterations in a family with Marfan syndrome.Heliyon · 2024Article
- Novel p.G1344E mutation inThe British journal of ophthalmology · 2021Article
- Mutation screening in the FBN1 gene responsible for Marfan syndrome and related disorder in Chinese families.Molecular genetics & genomic medicine · 2019Article
- A novel mutation inInternational journal of ophthalmology · 2019Article
- Article
- Novel FBN1 mutations are responsible for cardiovascular manifestations of Marfan syndrome.Molecular biology reports · 2016Article
- Comparison of gene expression profiles in aortic dissection and normal human aortic tissues.Biomedical reports · 2016Article
- Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD.Scientific reports · 2015Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo screen mutations in the fibrillin-1 (FBN1) gene in a Chinese family with autosomal dominant Marfan syndrome (MFS).
methodsPatients and unaffected family members were given ophthalmic, cardiovascular, and physical examinations with a 5-year follow-up. Genomic DNA was extracted from the leukocytes of venous blood from all patients and their relatives. The entire coding region of the FBN1gene was screened with an ABI 9700 GeneAmp PCR System. The mutation identified was screened in 100 healthy and ethnically unrelated Chinese individuals.
resultsMutation screening in FBN1 identified a T>G transition at position c.1786 in exon 14, leading to substitution of cysteine for glycine at codon 596 (C596G) in this four-generation Chinese family. The C596G mutation was associated with the disease phenotypes in all six patients but not found in 14 unaffected family members or the 100 ethnically unrelated and healthy controls.
conclusionsA C596G mutation in FBN1 was identified in a Chinese family with MFS. Our results expand the spectrum of FBN1 mutations and contribute to the understanding of the role of FBN1 in the pathogenesis of Marfan syndrome.
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25729264PMC4341440W1680695245What OpenQuestion holds
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