{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T15:57:45Z","timestamp":1785772665630,"version":"3.56.0"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,6,14]],"date-time":"2026-06-14T00:00:00Z","timestamp":1781395200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,6,14]],"date-time":"2026-06-14T00:00:00Z","timestamp":1781395200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["PNRR\u2010MCNT2\u20102023\u201012377305"],"award-info":[{"award-number":["PNRR\u2010MCNT2\u20102023\u201012377305"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    <jats:italic>CTNNA3<\/jats:italic>\n                    encodes \u03b1T\u2010catenin, which contributes to the integrity of the myocardium. Single nucleotide variants are occasionally associated with arrhythmogenic right ventricular cardiomyopathy, and structural variations are apparently enriched in neurodevelopmental disorders. We report a multiplex family in which a ~60\u2009kb microdeletion of\n                    <jats:italic>CTNNA3<\/jats:italic>\n                    co\u2010segregates with a variable, heart\u2010restricted phenotype including non\u2010dilated left ventricle cardiomyopathy (NDLVC) in one individual and dilated cardiomyopathy in two, with or without apex hypertrabeculation. The intragenic deletion was identified by XONarray and, subsequently, characterized by long\u2010read sequencing after nonconclusive multigene panel testing. This deletion selectively involved exon 9 and was predicted in\u2010frame by removing 153 amino acids and, thus, disrupting the \u03b1\u2010catenin\/vinculin\u2010like domain, which is critical for proper conformational homodimerization of the encoded \u03b1T\u2010catenin. This intragenic deletion co\u2010segregating with NDLVC and dilated cardiomyopathy confirms that\n                    <jats:italic>CTNNA3<\/jats:italic>\n                    is a candidate gene for hereditary cardiomyopathies.\n                  <\/jats:p>","DOI":"10.1111\/cge.70196","type":"journal-article","created":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T06:42:01Z","timestamp":1781505721000},"page":"402-407","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical Variability Including Non\u2010Dilated Left Ventricular and Dilated Cardiomyopathy in a Pedigree With an Intragenic\n                    <scp>\n                      <i>CTNNA3<\/i>\n                    <\/scp>\n                    Copy Number Variation"],"prefix":"10.1111","volume":"110","author":[{"given":"Carmela","family":"Fusco","sequence":"first","affiliation":[{"name":"Inborn Errors of Morphogenesis Research Unit and Division of Medical Genetics Fondazione IRCCS\u2010Casa Sollievo Della Sofferenza  San Giovanni Rotondo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Mastroianno","sequence":"additional","affiliation":[{"name":"Division of Electrophysiology Fondazione IRCCS\u2010Casa Sollievo Della Sofferenza  San Giovanni Rotondo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Morlino","sequence":"additional","affiliation":[{"name":"Inborn Errors of Morphogenesis Research Unit and Division of Medical Genetics Fondazione IRCCS\u2010Casa Sollievo Della Sofferenza  San Giovanni Rotondo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riccardo","family":"Pracella","sequence":"additional","affiliation":[{"name":"Inborn Errors of Morphogenesis Research Unit and Division of Medical Genetics Fondazione IRCCS\u2010Casa Sollievo Della Sofferenza  San Giovanni Rotondo 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