Article
Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection.
Molecular genetics & genomic medicine - 1 Jan 2020
Xu Shijun, Li Lei, Fu Yuwei, Wang Xin, Sun Hairui, Wang Jianbin, Han Lu, Wu Zining, Liu Yongmin, Zhu Junming, Sun Lizhong, Lan Feng, He Yihua, Zhang Hongjia
Abstract excerpt
BACKGROUND: Marfan syndrome (MFS) is an inherited connective tissue disease that mainly involves Fibrillin-1 (FBN1) mutations and aortic manifestations. In this study, we investigated the correlations between the FBN1 genotype-phenotype and aortic events (aortic dissection and aortic aneurysm) in patients with Marfan syndrome. METHODS: Genotype and phenotype information was evaluated in 180 patients with MFS. DNA...
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