Int J Med Sci 2021; 18(13):2752-2766. doi:10.7150/ijms.60685 This issue


The Molecular Genetics of Marfan Syndrome

Qiu Du1*, Dingding Zhang1,2✉*, Yue Zhuang3*, Qiongrong Xia1, Taishen Wen2, Haiping Jia4

1. Marfan Research Group, College of Medical Technology, Chengdu University of Traditional Chinese Medicine, Chengdu, 610072, Sichuan, China.
2. Sichuan Provincial Key Laboratory for Genetic Disease, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 611731, Sichuan, China.
3. Department of Rheumatology and Immunology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, 611731, Sichuan, China.
4. Department of Immunology, North Sichuan Medical College, Nanchong, 637100, Sichuan, China.
*Contributed equally

This is an open access article distributed under the terms of the Creative Commons Attribution License ( See for full terms and conditions.
Du Q, Zhang D, Zhuang Y, Xia Q, Wen T, Jia H. The Molecular Genetics of Marfan Syndrome. Int J Med Sci 2021; 18(13):2752-2766. doi:10.7150/ijms.60685. Available from

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Graphic abstract

Marfan syndrome (MFS) is a complex connective tissue disease that is primarily characterized by cardiovascular, ocular and skeletal systems disorders. Despite its rarity, MFS severely impacts the quality of life of the patients. It has been shown that molecular genetic factors serve critical roles in the pathogenesis of MFS. FBN1 is associated with MFS and the other genes such as FBN2, transforming growth factor beta (TGF-β) receptors (TGFBR1 and TGFBR2), latent TGF-β-binding protein 2 (LTBP2) and SKI, amongst others also have their associated syndromes, however high overlap may exist between these syndromes and MFS. Abnormalities in the TGF-β signaling pathway also contribute to the development of aneurysms in patients with MFS, although the detailed molecular mechanism remains unclear. Mutant FBN1 protein may cause unstableness in elastic structures, thereby perturbing the TGF-β signaling pathway, which regulates several processes in cells. Additionally, DNA methylation of FBN1 and histone acetylation in an MFS mouse model demonstrated that epigenetic factors play a regulatory role in MFS. The purpose of the present review is to provide an up-to-date understanding of MFS-related genes and relevant assessment technologies, with the aim of laying a foundation for the early diagnosis, consultation and treatment of MFS.

Keywords: Marfan syndrome, diagnose, genetics, technology