Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1.

Mao LinZhenlei LiuGang LiuSen ZhaoChao LiWeisheng ChenZeynep Coban AkdemirJiachen LinXiaofei SongShengru WangQiming XuYanxue ZhaoLianlei WangYuanqiang ZhangZihui YanSen LiuJiaqi LiuYixin ChenYuzhi ZuoXu YangTianshu SunXin-Zhuang YangYuchen NiuXiaoxin LiWesley YouBintao QiuChen DingPengfei LiuShuyang ZhangClaudia M B CarvalhoJennifer E PoseyGuixing Qiunull nullJames R LupskiZhihong WuJianguo ZhangNan Wu

Published in: Molecular genetics & genomic medicine (2019)

We provide direct evidence that a dominant-negative interaction of FBN1 potentially explains the complex MPLS phenotypes through genetic and functional analysis. Our study expands the mutation spectrum of FBN1 and highlights the potential molecular mechanism for MPLS.

Keyphrases

genome wide
copy number
dna methylation
gene expression
human health