ArticleEuropean journal of human genetics : EJHG2021
TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility.
Article in European journal of human genetics : EJHG, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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19 citing papers in PubMed, 30 citations in OpenAlex.
- Developing Del2Phen: A Novel Phenotype Description Tool for Chromosome Deletions.Human mutation · 2026Article
- Repair of Ventricular Septal Defect in Children withSurgical case reports · 2026Article
- TAB2 deficiency induces dilated cardiomyopathy by promoting mitochondrial calcium overload in human iPSC-derived cardiomyocytes.Molecular medicine (Cambridge, Mass.) · 2025Article
- Article
- Growth restriction and congenital heart disease caused by a novelExperimental and therapeutic medicine · 2023Article
- A Genetic Etiology Identified for a Form of Familial Polyvalvular Dysplasia.JACC. Case reports · 2023Article
- Knockout mice are an important tool for human monogenic heart disease studies.Disease models & mechanisms · 2023Article
- Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability.Orphanet journal of rare diseases · 2023Article
- Assigning pathogenicity for TAB2 variants using a novel scalable functional assay and expanding TAB2 disease spectrum.Human molecular genetics · 2023Article
- Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3-generation family.American journal of medical genetics. Part A · 2022Article
- Expanding the phenotype of TAB2 variants and literature review.American journal of medical genetics. Part A · 2022Article
- The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.Human mutation · 2022Article
- Considering the Genetic Architecture of Hypoplastic Left Heart Syndrome.Journal of cardiovascular development and disease · 2022Article
- Necroptosis in heart disease: Molecular mechanisms and therapeutic implications.Journal of molecular and cellular cardiology · 2022Review
- [Association BetweenSichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2022Article
- TAB2 deficiency induces dilated cardiomyopathy by promoting RIPK1-dependent apoptosis and necroptosis.The Journal of clinical investigation · 2022Article
- Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart?Journal of cardiovascular development and disease · 2022Review
- Genotyping arrays, population genetic studies and clinical implications.European journal of human genetics : EJHG · 2021Article
- Polyvalvular dysplasia related to haploinsufficiency of the TAB2 gene in Indian children - A disease with need for careful follow-up.Annals of pediatric cardiologyArticle
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Authors and funding
14 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Deletions that include the gene TAB2 and TAB2 loss-of-function variants have previously been associated with congenital heart defects and cardiomyopathy. However, other features, including short stature, facial dysmorphisms, connective tissue abnormalities and a variable degree of developmental delay, have only been mentioned occasionally in literature and thus far not linked to TAB2. In a large-scale, social media-based chromosome 6 study, we observed a shared phenotype in patients with a 6q25.1 deletion that includes TAB2. To confirm if this phenotype is caused by haploinsufficiency of TAB2 and to delineate a TAB2-related phenotype, we subsequently sequenced TAB2 in patients with matching phenotypes and recruited patients with pathogenic TAB2 variants detected by exome sequencing. This identified 11 patients with a deletion containing TAB2 (size 1.68-14.31 Mb) and 14 patients from six families with novel truncating TAB2 variants. Twenty (80%) patients had cardiac disease, often mitral valve defects and/or cardiomyopathy, 18 (72%) had short stature and 18 (72%) had hypermobility. Twenty patients (80%) had facial features suggestive for Noonan syndrome. No substantial phenotypic differences were noted between patients with deletions and those with intragenic variants. We then compared our patients to 45 patients from the literature. All literature patients had cardiac diseases, but syndromic features were reported infrequently. Our study shows that the phenotype in 6q25.1 deletions is caused by haploinsufficiency of TAB2 and that TAB2 is associated not just with cardiac disease, but also with a distinct phenotype, with features overlapping with Noonan syndrome. We propose the name "TAB2-related syndrome".
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