The abnormal splicing regulation network caused by synonymous mutations in FBN1 exon 39 leads to Marfan syndrome  

作　　者：Fudan Wu Mingjie Li Xuan Zhou Qianyun Wang Yan’an Wu 

机构地区：[1]Department of Clinical Laboratory,Xiang’an Hospital of Xiamen University,School of Medicine,Xiamen University,Xiamen,Fujian 361102,China [2]Department of Clinical Laboratory,Fujian Medical University Union Hospital,Fuzhou,Fujian 350001,China [3]Department of Clinical Laboratory,Mengchao Hepatobiliary Hospital of Fujian Medical University,Fuzhou,Fujian 350000,China

出　　处：《Genes & Diseases》2025年第3期4-6,共3页基因与疾病(英文)

基　　金：supported by the Fujian Provincial Health Technology Project(China)(No.2023QNA016);the Guidance in Medical and Health Program of Xiamen,China(No.3502Z20209120);Scientific Research Foundation for Advanced Talents,Xiang’an Hospital of Xiamen University(China)(No.PM201809170018).

摘　　要：Mutations in fibrillin-1 gene(FBN1)have been shown to be associated with Marfan syndrome and most FBN1 mutations display missense or nonsense.Recently,reports on synonymous mutation-related diseases have attracted widespread attention.Zhang et al demonstrated that synonymous mutations in saccharomyces cerevisiae have pathogenicity like non-synonymous mutations.1 Based on a special Marfan syndrome patient with a novel synonymous mutation in FNB1.

关 键 词：Marfan syndrome marfan syndrome splicing regulation abnormal splicing synonymous mutation synonymous mutations FBN saccharomyces cerevisiae 

分 类 号：R596[医药卫生—内科学]