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Microdeletions encompassing <jats:italic>TAB2<\/jats:italic> have been detected in various patients with congenital heart defects (CHD), indicating that haploinsufficiency of <jats:italic>TAB2<\/jats:italic> causes CHD. To date, seven variants within <jats:italic>TAB2<\/jats:italic> were reported associated with CHD, only two of them are nonsense mutations.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Case presentation<\/jats:title>\n<jats:p>Here we describe a three-generation Chinese family that included five CHD patients with heart valvular defects, such as mitral or tricuspid valves prolapse or regurgitation, and aortic valve stenosis or regurgitation. Our proband was a pregnant woman presenting with mitral, tricuspid, and aortic defects; her first child experienced sudden cardiac death at the age of 2 years. Whole-exome sequencing of the proband revealed a novel nonsense variant in <jats:italic>TAB2<\/jats:italic> (c.C446G, p.S149X), which results in the elimination of the majority of C-terminal amino acids of TAB2, including the critical TAK1-binding domain. The variant was identified in five affected patients but not in the eight unaffected family members using Sanger sequencing and was classified as \u201cpathogenic\u201d according to the latest recommendation on sequence variants laid out by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Conclusion<\/jats:title>\n<jats:p>We described a family with CHD caused by a novel <jats:italic>TAB2<\/jats:italic> nonsense mutation. Our study broadens the mutation spectrum of <jats:italic>TAB2<\/jats:italic>; to the best of our knowledge, this is the first report of a pathogenic mutation within <jats:italic>TAB2<\/jats:italic> in a Chinese population.<\/jats:p>\n<\/jats:sec>","DOI":"10.1186\/s12872-019-01322-1","type":"journal-article","created":{"date-parts":[[2020,1,20]],"date-time":"2020-01-20T14:18:36Z","timestamp":1579529916000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family"],"prefix":"10.1186","volume":"20","author":[{"given":"Jia","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huizhen","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kang","family":"Xie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinrong","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linglong","family":"Tan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongyi","family":"Zou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lu","family":"Pan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Junfang","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ge","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6123-5618","authenticated-orcid":false,"given":"Yanqiu","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2020,1,20]]},"reference":[{"issue":"4","key":"1322_CR1","doi-asserted-by":"publisher","first-page":"649","DOI":"10.1016\/S1097-2765(00)80244-0","volume":"5","author":"G Takaesu","year":"2000","unstructured":"Takaesu G, et al. 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Written informed consents for the use of medical information and genetic analysis were obtained from all the enrolled subjects.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The enrolled adults provided signed consents for the permission of using their clinical information and sequencing data for research purposes and\/or scientific publications. For the participants under 16\u2009years old, written informed consent was obtained from their parents. For the participant died at adult stage (I:2), written informed consent was obtained from her daughters.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"27"}}