马凡氏综合征
先证者
桑格测序
基因检测
遗传学
主动脉夹层
纤维蛋白
基因
突变
医学
疾病
生物信息学
生物
病理
内科学
主动脉
作者
Hang Yang,Mingyao Luo,Qianlong Chen,Yuanyuan Fu,Jing Zhang,Xiangyang Qian,Xiaogang Sun,Yuxin Fan,Zhou Zhou,Qian Chang
标识
DOI:10.1016/j.cca.2016.05.021
摘要
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder typically involving the ocular, skeletal and cardiovascular systems, and aortic aneurysms/dissection mainly contributes to its mortality. Here, we performed genetic testing of the FBN1 gene in 39 Chinese probands with Marfan/Marfan-like syndrome and their related family members by Sanger sequencing. In total, 29 pathogenic/likely pathogenic FBN1 mutations, including 17 novel ones, were identified. In addition, most MFS patients with aortic disease (62%) had a truncating or splicing mutation. These results expand the FBN1 mutation spectrum and enrich our knowledge of genotype-phenotype correlations. Genetic testing for MFS and its related aortic diseases is increasingly important for early intervention and treatment.
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