ArticleMolecular genetics & genomic medicine2019
Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 6 citations in OpenAlex.
- Comparison of Fibrillin-1 and Fibrillin-2 Gene Expression Level in Esophageal Squamous Cell Carcinoma Tumor Tissue and Tumor Margin Tissue.Iranian journal of medical sciences · 2025Article
- Dominance vs epistasis: the biophysical origins and plasticity of genetic interactions within and between alleles.Nature communications · 2023Article
- Delineation of dual molecular diagnosis in patients with skeletal deformity.Orphanet journal of rare diseases · 2022Article
- Updated genetic studies of Marfan syndrome in China.Intractable & rare diseases research · 2021Article
- The Molecular Genetics of Marfan Syndrome.International journal of medical sciences · 2021Review
- Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
8 authors at 3 institutions in 1 country.
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Abstract
backgroundPathogenic variants in FBN1 cause autosomal dominant Marfan syndrome but can also be found in patients presenting with apparently isolated features of Marfan syndrome. Moreover, several families with autosomal recessive Marfan syndrome caused by pathogenic variants in FBN1 have been described. The aim of this report was to underline the clinical variability that can be associated with the pathogenic variant c.1453C>T, p.(Arg485Cys) in FBN1.
methodsWe provide the clinical details of two autosomal dominant families with this specific FBN1 variant, which was previously associated with autosomal recessive Marfan syndrome.
resultsClinical data of 14 individuals carrying this variant from these two families were collected retrospectively. In both families, the diagnosis of autosomal dominant Marfan syndrome was established based on the characteristics of the variant and the phenotype which includes aortic aneurysms and dissections. Of interest, in one of the families, multiple relatives were diagnosed with early onset abdominal aortic aneurysms.
conclusionIn conclusion, FBN1 variant c.1453C>T, p.(Arg485Cys) is a pathogenic variant that can cause autosomal dominant Marfan syndrome characterized by a high degree of clinical variability and apparently isolated early onset familial abdominal aortic aneurysms.
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