Updated genetic studies of Marfan syndrome in China

Intractable Rare Dis Res. 2021 Nov;10(4):288-291. doi: 10.5582/irdr.2021.01139.

Abstract

Marfan syndrome (MFS) is an autosomal dominant connective tissue disease that affects multiple systems such as the ocular, skeletal, and cardiovascular systems. This disease is relatively rare and has no effective treatment except for symptomatic treatment. As a result, early detection, early intervention, and preventing the occurrence of adverse cardiovascular outcomes are crucial to the diagnosis and treatment of MFS. The rapid development of gene sequencing technology has facilitated the detection of MFS at the genetic level, allowing a more accurate and efficient diagnosis of the disease. Therefore, research on MFS-related genes has become a topic of interest. This article reviews the recent progress of genetic research on MFS in China.

Keywords: FBN1; Marfan syndrome (MFS); TGFBR2; base editor 3 (BE3); gene sequencing.