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

ABSTRACT:

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 differe

SUBMITTER: Tjeldhorn L 

PROVIDER: S-EPMC4683784 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature