{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T19:57:37Z","timestamp":1788897457102,"version":"build-2803163510"},"reference-count":21,"publisher":"BMJ","issue":"2","funder":[{"name":"Medical Research Future Fund","award":["EPCD000028"],"award-info":[{"award-number":["EPCD000028"]}]},{"DOI":"10.13039\/100002129","name":"Heart Foundation","doi-asserted-by":"publisher","award":["Future Leader Fellowship 106732"],"award-info":[{"award-number":["Future Leader Fellowship 106732"]}],"id":[{"id":"10.13039\/100002129","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["GNTIER 1113531"],"award-info":[{"award-number":["GNTIER 1113531"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["GNTIER 2000001"],"award-info":[{"award-number":["GNTIER 2000001"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["Investigator Grant #2016822"],"award-info":[{"award-number":["Investigator Grant #2016822"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009287","name":"NSW Health","doi-asserted-by":"publisher","award":["Cardiovascular Disease Clinician Scientist Grant"],"award-info":[{"award-number":["Cardiovascular Disease Clinician Scientist Grant"]}],"id":[{"id":"10.13039\/501100009287","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009287","name":"NSW Health","doi-asserted-by":"publisher","award":["Cardiovascular Disease Senior Scientist Grant"],"award-info":[{"award-number":["Cardiovascular Disease Senior Scientist Grant"]}],"id":[{"id":"10.13039\/501100009287","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2023,8,8]]},"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:p>\n                  <jats:italic>TBX20<\/jats:italic> encodes a cardiac transcription factor that is associated with atrial septal defects. Recent studies implicate loss-of-function <jats:italic>TBX20<\/jats:italic> variants with left ventricular non-compaction cardiomyopathy (LVNC), although clinical and genetic data in families are limited. We report four families with <jats:italic>TBX20<\/jats:italic> loss-of-function variants that segregate with LVNC. Genetic testing using genome or exome sequencing was performed in index cases, variants were validated with Sanger sequencing, and cascade genetic testing was performed in family members. A multi-exon deletion, small deletion, essential splice site variant and nonsense variant in <jats:italic>TBX20<\/jats:italic> were found in four families. The index cases in two families were symptomatic children with identical congenital heart diseases and LVNC who developed different cardiomyopathy phenotypes with one developing heart failure requiring transplantation. In another family, the child index case had LVNC and congestive heart failure requiring heart transplantation. In the fourth family, the index case was a symptomatic adult with LVNC. In all families, the variants segregated in relatives with isolated LVNC, or with congenital heart disease or cardiomyopathy. Family members displayed a clinical spectrum from asymptomatic to severe presentations including heart failure. Our data strengthen <jats:italic>TBX20<\/jats:italic> loss-of-function variants as a rare cause of LVNC and support <jats:italic>TBX20<\/jats:italic> inclusion in genetic testing of LVNC.<\/jats:p>","DOI":"10.1136\/jmg-2023-109455","type":"journal-article","created":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T13:20:30Z","timestamp":1693574430000},"page":"171-175","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":5,"title":["<i>TBX20<\/i> loss-of-function variants in families with left ventricular non-compaction cardiomyopathy"],"prefix":"10.1136","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5558-5454","authenticated-orcid":false,"given":"Yuchen","family":"Chang","sequence":"first","affiliation":[{"name":"Bioinformatics and Molecular Genetics at Centenary Institute, The University of Sydney, Sydney, New South Wales, Australia"},{"name":"Faculty of Medicine and Health, The University of Sydney, Sydney, 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