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A novel genetic interplay in marfan syndrome: a brief review of literature and presentation of a case

MOJ Proteomics & Bioinformatics
Tuiçe Nur Eralp,1,2 Seda Çelik,3 Ak?n Sevinç4, 5

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Problem statement:Marfan syndrome (MFS) is an inherited connective tissue disorder with an autosomal dominant inheritance pattern and has an incidence rate of 4 – 17 per 100,000 births worldwide. Until recently, majority of the cases were attributed to mutations in genes such as FBN1 and FBN2, whereas interplay of numerous other genes has been recently documented. MFS is characterized by its effects on multiple organ systems such as cardiovascular, ocular and skeletal anomalies.
Methods:We investigated the mutations in FBN1, FBN2, COL6A2 and TGFBR1 genes using whole genome sequencing of a patient with Marfan syndrome. For this purpose, we performed sequence analysis of the genes implicated to be involved in the onset and progression of Marfan Syndrome, followed by whole genome sequencing of the patient genome. This was followed by expression analysis of thefibrillin-1, fibrillin-2, collagen alpha 2 (VI), TGF-beta receptor type-1 proteins.
Results: According to whole genome sequencing data; there are seven mutations in the FBN1 gene, eight mutations in the FBN2 gene, thirty-seven mutations in the COL6A2 gene, and two mutations in the TGFBR1 gene. Expression analysis showed that the expression of the FBN1 gene was reduced by 50%, whereas the expression of the FBN2 gene was overexpressed by 150%. Additionally, a slight decrease was observed in the expressions of COL6A2 and TGFBR1 genes.
Conclusion: Exome analysis revealed that, albeit none identified as clinically important, all but two of the genetic alterations observed in our patient was among documented variations. However, these two alterations were presumed to be located at potentially important locations that may affect the function of the proteins. We, therefore, believe that this intriguing presence or interplay of these two variations might provide us insight into mechanisms for the development and potentially formulation of therapeutical strategies of Marfan Syndrome.


inherited connective, skeletal anomalies, cardiovascular, expression analysis, therapeutical strategies, multidisciplinary assessment, echocardiographic, clinical heterogeneity, cardiology, ophthalmology, orthopedics, genetics