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Open AccessArticle

Reference Expression Profile of Three FBN1 Transcript Isoforms and Their Association with Clinical Variability in Marfan Syndrome

1
Laboratory for Vascular Translational Science, INSERM U1148, Centre Hospitalo-Universitaire Xavier Bichat, 46 rue Henri Huchard, 75018 Paris, France
2
Service de Neuropédiatrie, Hôpital Necker-Enfants-Malades, 149 rue de Sèvres, 75015 Paris, France
3
Département de Génétique, Centre Hospitalo-Universitaire Xavier Bichat, 46 rue Henri 17 Huchard, 75018 Paris, France
4
Centre de Référence pour le Syndrome de Marfan et syndromes apparentés, Service de Cardiologie, Centre Hospitalo-Universitaire Xavier Bichat, 46 rue Henri Huchard, 75018 Paris, France
5
UFR de Médecine, Université Paris Diderot, 16 rue Henri Huchard, 75018 Paris, France
*
Author to whom correspondence should be addressed.
These authors contributed equally.
Genes 2019, 10(2), 128; https://doi.org/10.3390/genes10020128
Received: 7 January 2019 / Revised: 30 January 2019 / Accepted: 6 February 2019 / Published: 11 February 2019
(This article belongs to the Section Human Genomics and Genetic Diseases)
Marfan syndrome (MFS) is a rare connective tissue disorder mainly due to mutations in the FBN1 gene. Great phenotypic variability is notable for age of onset, the presence and absence, and the number and the severity of the symptoms. Our team showed that FBN1 gene expression level was a good surrogate endpoint for severity of some MFS clinical features. Eight alternative transcripts are referenced for the FBN1 gene. We hypothesized that MFS clinical variability could be related to specific FBN1 isoforms. Isoform expression profiles were investigated in skin and adventitial fibroblasts from controls and MFS patients. The results of the study showed that, in skin and adventitial fibroblasts, only three isoforms were found: FBN1_001, FBN1_004, and FBN1_009. The main isoform was FBN1_001 and it was significantly reduced in skin and adventitial fibroblasts of MFS patients. The expressions of FBN1_004 and FBN1_009 isoforms were similar between controls and MFS patients. However, the expression of the three isoforms was correlated only in patients. Furthermore, their expression levels were associated with the presence of ectopia lentis in MFS patients. Therefore, our results highlight that the two minor alternatively spliced FBN1 isoforms play a possible role in the pathogenesis of the disease. View Full-Text
Keywords: Marfan syndrome; clinical variability; fibrilline-1; alternative splicing; isoforms Marfan syndrome; clinical variability; fibrilline-1; alternative splicing; isoforms
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Benarroch, L.; Aubart, M.; Gross, M.-S.; Arnaud, P.; Hanna, N.; Jondeau, G.; Boileau, C. Reference Expression Profile of Three FBN1 Transcript Isoforms and Their Association with Clinical Variability in Marfan Syndrome. Genes 2019, 10, 128.

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