{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T12:37:50Z","timestamp":1789043870191,"version":"build-2803163510"},"reference-count":26,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2017,5,2]],"date-time":"2017-05-02T00:00:00Z","timestamp":1493683200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,7]]},"abstract":"<jats:sec><jats:label\/><jats:p>Congenital heart defects (CHD) are the most frequent type of congenital anomaly and are often associated with genetic and chromosomal syndromes. Haploinsufficiency of <jats:italic>TAB2<\/jats:italic> (<jats:italic>TGF\u2010beta activated kinase 1\/MAP3K7 binding protein 2<\/jats:italic>) has been proposed to cause valvular and cardiac outflow tract structural abnormalities. In this study, we describe 13 newly identified individuals with microdeletions of chromosome 6q25.1 that involve <jats:italic>TAB2<\/jats:italic>. One of the patients in our study cohort has the smallest deletion yet reported, affecting only <jats:italic>TAB2<\/jats:italic>. These were compared to 27 other patients reported in the published literature or DECIPHER to have similar microdeletions, for a total study group of 40 patients. Our study shows that individuals with <jats:italic>TAB2<\/jats:italic> deletions are predisposed to developing a primary cardiomyopathy with reduced systolic function, even in the absence of CHD. Our study cohort also shares a number of non\u2010cardiac phenotypic findings: characteristic dysmorphic facial features, intrauterine growth restriction and\/or postnatal proportionate short stature, hypotonia, developmental delay and\/or intellectual disability, and connective tissue abnormalities. We conclude that a microdeletion of 6q25.1 that includes <jats:italic>TAB2<\/jats:italic> causes a distinctive, multi\u2010systemic syndrome. The 6q25.1 microdeletion syndrome should be considered in a patient with cardiomyopathy or a CHD, especially valve and\/or atrial or ventricular septal abnormalities, and with phenotypic features described in this study. We recommend that patients with a <jats:italic>TAB2<\/jats:italic> deletion be screened longitudinally for systolic heart failure, even if an initial echocardiogram is normal.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38254","type":"journal-article","created":{"date-parts":[[2017,5,2]],"date-time":"2017-05-02T16:37:23Z","timestamp":1493743043000},"page":"1848-1857","source":"Crossref","is-referenced-by-count":28,"title":["6q25.1 (<i>TAB2<\/i>) microdeletion syndrome: Congenital heart defects and cardiomyopathy"],"prefix":"10.1002","volume":"173","author":[{"given":"Andrew","family":"Cheng","sequence":"first","affiliation":[{"name":"Department of Cardiology University of Washington School of Medicine Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary Beth P.","family":"Dinulos","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Pathology Section of Medical Genetics Dartmouth\u2010Hitchcock Medical Center One Medical 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