ArticleBMC medical genetics2015
Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.
Article in BMC medical genetics, 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, 14 citations in OpenAlex.
- Combined genome and transcriptome analysis identifies molecular signatures of aortic disease in patients with Marfan syndrome.Journal of molecular and cellular cardiology plus · 2025Article
- A diagnostic RNA sequencing assay for direct identification and interpretation of pathogenic variants in theFrontiers in molecular biosciences · 2025Article
- Review
- Multi-Omics Profiling in Marfan Syndrome: Further Insights into the Molecular Mechanisms Involved in Aortic Disease.International journal of molecular sciences · 2021Article
- Novel p.G1344E mutation inThe British journal of ophthalmology · 2021Article
- A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report.BMC medical genetics · 2020Article
- Survival, causes of death, and cardiovascular events in patients with Marfan syndrome.Molecular genetics & genomic medicine · 2018Article
- A Novel Heterozygous Intronic Mutation in theBioMed research international · 2018Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPathogenic mutations in FBN1, encoding the glycoprotein, fibrillin-1, cause Marfan syndrome (MFS) and related connective tissue disorders. In the present study, qualitative and quantitative effects of 16 mutations, identified in FBN1 in MFS patients with systematically described phenotypes, were investigated in vitro.
methodsQualitative analysis was performed with reverse transcription-PCR (RT-PCR) and gel electrophoresis, and quantitative analysis to determine the FBN1 mRNA levels in fibroblasts from the 16 patients with MFS was performed with real-time PCR.
resultsQualitative analysis documented that the mutations c.4817-2delA and c.A4925G led to aberrant FBN1 mRNA splicing leading to in frame deletion of exon 39 and in exon 39, respectively. No difference in the mean FBN1 mRNA level was observed between the entire group of cases and controls, nor between the group of patients with missense mutations and controls. The mean expression levels associated with premature termination codon (PTC) and splice site mutations were significantly lower than the levels in patients with missense mutations. A high level of FBN1 mRNA in the patient with the missense mutation c.G2447T did not segregate with the mutation in three of his first degree relatives. No association was indicated between the FBN1 transcript level and specific phenotypic manifestations.
conclusionsAbnormal FBN1 transcripts were indicated in fibroblasts from patients with the splice site mutation c.4817-2delA and the missense mutation c.A4925G. While the mean FBN1 mRNA expression level in fibroblasts from patients with splice site and PTC mutations were lower than the mean level in patients with missense mutations and controls, inter-individual variability was high. The observation that high level of FBN1 mRNA in the patient with the missense mutation c.G2447T did not segregate with the mutation in the family suggests that variable expression of the normal FBN1 allele may contribute to explain the variability in FBN1 mRNA level.
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