Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome

被引：7

作者：

Wang, Yueli

Li, Xiaoyan

Li, Rongjuan

Yang, Ya

Du, Jie ^{[1
]}

机构：

[1] Capital Med Univ, Dept Echocardiog, Beijing Anzhen Hosp, Beijing, Peoples R China

来源：

INTERNATIONAL JOURNAL OF GENOMICS | 2018年 / 2018卷

基金：

国家重点研发计划; 中国国家自然科学基金;

关键词：

DIAGNOSIS; GENOTYPE; GENETICS;

D O I：

10.1155/2018/1246516

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Marfan syndrome (MFS) is an autosomal dominant genetic disorder of the connective tissue, typically characteristic of cardiovascular manifestations, valve prolapse, left ventricle enlargement, and cardiac failure. Fibrillin-1 (FBN1) is the causative gene in the pathogenesis of MFS. Patients with different FBN1 mutations often present more considerable phenotypic variation. In the present study, three affected MFS pedigrees were collected for genetic analysis. Using next-generation sequencing (NGS) technologies, 3 novel frameshift pathogenic mutations which are cosegregated with affected subjects in 3 pedigrees were identified. These novel mutations provide important diagnostic and therapeutic insights for precision medicine in MFS, especially regarding the lethal cardiovascular events.

引用

页数：8

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