{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T06:17:51Z","timestamp":1787897871796,"version":"build-2784847793"},"reference-count":49,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,7,17]],"date-time":"2023-07-17T00:00:00Z","timestamp":1689552000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["CCR\u20102017\u201023669081"],"award-info":[{"award-number":["CCR\u20102017\u201023669081"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["ricerca 5x1000_2019"],"award-info":[{"award-number":["ricerca 5x1000_2019"]}],"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":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>CTNNB1<\/jats:italic> [OMIM *116806] encodes \u03b2\u2010catenin, an integral part of the cadherin\/catenin complex, which functions as effector of Wnt signaling. <jats:italic>CTNNB1<\/jats:italic> is highly expressed in brain as well as in other tissues, including heart. Heterozygous <jats:italic>CTNNB1<\/jats:italic> pathogenic variations are associated with a neurodevelopmental disorder characterized by spastic diplegia and visual defects (NEDSDV) [OMIM #615075], featuring psychomotor delay, intellectual disability, behavioral disturbances, movement disorders, visual defects and subtle facial and somatic features. We report on a new series of 19 NEDSDV patients (mean age 10.3\u2009years), nine of whom bearing novel <jats:italic>CTNNB1<\/jats:italic> variants. Notably, five patients showed congenital heart anomalies including absent pulmonary valve with intact ventricular septum, atrioventricular canal with hypoplastic aortic arch, tetralogy of Fallot, and mitral valve prolapse. We focused on the cardiac phenotype characterizing such cases and reviewed the congenital heart defects in previously reported NEDSDV patients. While congenital heart defects had occasionally been reported so far, the present findings configure a higher rate of cardiac anomalies, suggesting dedicated heart examination to NEDSDV clinical management.<\/jats:p>","DOI":"10.1111\/cge.14404","type":"journal-article","created":{"date-parts":[[2023,7,17]],"date-time":"2023-07-17T07:52:39Z","timestamp":1689580359000},"page":"528-541","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Congenital heart defects in <i>CTNNB1<\/i> syndrome: Raising clinical awareness"],"prefix":"10.1111","volume":"104","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1371-936X","authenticated-orcid":false,"given":"Lorenzo","family":"Sinibaldi","sequence":"first","affiliation":[{"name":"Medical Genetics Unit IRCCS Bambino Ges\u00f9 Children Hospital  Rome 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