ArticleGenetics research2016
Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients.
Article in Genetics research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 4 citations in OpenAlex.
- Application of family whole-exome sequencing for prenatal diagnosis-an analysis of 357 cases.Frontiers in medicine · 2025Article
- A diagnostic RNA sequencing assay for direct identification and interpretation of pathogenic variants in theFrontiers in molecular biosciences · 2025Article
- A novel mutation inInternational journal of ophthalmology · 2019Article
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Authors and funding
7 authors at 4 institutions in 2 countries.
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Abstract
Marfan syndrome is an autosomal dominant connective tissue disorder, predominantly affecting the ocular, skeletal and cardiovascular systems. Here, we present the results of the first genetic testing in 40 Ukrainian Marfan (-like) patients and 10 relatives. We applied a targeted next generation sequencing panel comprising FBN1 and 13 thoracic aortic aneurysm genes. We identified 27 causal mutations in FBN1, obtaining a mutation yield of 67·5%. A significant difference in age at aortic surgery between mutation positive and negative patients was observed. Thus, we conclude that genetic testing is important to identify patients at higher risk for developing life-threatening cardiovascular complications.
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