Functional Analysis of an Intronic FBN1 Pathogenic Gene Variant in a Family With Marfan Syndrome

Functional Analysis of an Intronic FBN1 Pathogenic Gene Variant in a Family With Marfan Syndrome

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder that canonically affects the ocular, skeletal, and cardiovascular system, in which aortic tear and rupture is the leading cause of death for MFS patients. Genetically, MFS is primarily associated with fibrillin-1 (FBN1) pathog...

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Bibliographic Details
Main Authors: Kui Hu, Yun Wan, Fu-Tsuen Lee, Jinmiao Chen, Hao Wang, Haonan Qu, Tao Chen, Wang Lu, Zhenwei Jiang, Lufang Gao, Xiaojuan Ji, Liqun Sun, Daokang Xiang
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-04-01
Series:Frontiers in Genetics
Subjects:
Marfan syndrome
intronic variant
fibrillin 1
RNA splicing
genetic analysis
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.857095/full

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