A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family

A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family

Abstract Background TAB2 is an activator of MAP 3 K7/TAK1, which is required for the IL-1 induced signal pathway. Microdeletions encompassing TAB2 have been detected in various patients with congenital heart defects (CHD), indicating that haploinsufficiency of TAB2 causes CHD. To date, seven variant...

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Bibliographic Details
Main Authors: Jia Chen, Huizhen Yuan, Kang Xie, Xinrong Wang, Linglong Tan, Yongyi Zou, Yan Yang, Lu Pan, Junfang Xiao, Ge Chen, Yanqiu Liu
Format: Article
Language:English
Published: BMC 2020-01-01
Series:BMC Cardiovascular Disorders
Subjects:
Congenital heart defects
Valvular anomalies
TAB2
Whole-exome sequencing
Online Access:https://doi.org/10.1186/s12872-019-01322-1

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