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Background  Pathogenic 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.    Methods  Qualitative 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.    Results  Qualitative 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.    Conclusions  Abnormal  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 .Electronic supplementary material  The online version of this article (doi:10.1186/s12881-015-0260-4) contains supplementary material, which is available to authorized users.

Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome