Article
Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1.
Molecular genetics & genomic medicine - 1 Jan 2020
Lin Mao, Liu Zhenlei, Liu Gang, Zhao Sen, Li Chao, Chen Weisheng, Coban Akdemir Zeynep, Lin Jiachen, Song Xiaofei, Wang Shengru, Xu Qiming, Zhao Yanxue, Wang Lianlei, Zhang Yuanqiang, Yan Zihui, Liu Sen, Liu Jiaqi, Chen Yixin, Zuo Yuzhi, Yang Xu, Sun Tianshu, Yang Xin-Zhuang, Niu Yuchen, Li Xiaoxin, You Wesley, Qiu Bintao, Ding Chen, Liu Pengfei, Zhang Shuyang, Carvalho Claudia M B, Posey Jennifer E, Qiu Guixing, Lupski James R, Wu Zhihong, Zhang Jianguo, Wu Nan
Abstract excerpt
BACKGROUND: The molecular and genetic mechanisms by which different single nucleotide variant alleles in specific genes, or at the same genetic locus, cause distinct disease phenotypes often remain unclear. Allelic truncating mutations of FBN1 could cause either classical Marfan syndrome (MFS) or a more complicated phenotype associated with Marfanoid-progeroid-lipodystrophy syndrome (MPLS). METHODS: We...
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