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Article

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

BMC cardiovascular disorders - 20 Jan 2020

Chen Jia, Yuan Huizhen, Xie Kang, Wang Xinrong, Tan Linglong, Zou Yongyi, Yang Yan, Pan Lu, Xiao Junfang, Chen Ge, Liu Yanqiu

Abstract excerpt

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 variants within TAB2 were reported associated with CHD, only two of them are nonsense mutations. CASE PRESENTATION: Here we...

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Identifiers

PMID: 31959127
DOI: 10.1186/s12872-019-01322-1
PMCID: PMC6971906

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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