Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.

Autor: Sinibaldi L; Medical Genetics Unit, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Garone G; Clinical and Experimental Neurology, IRCCS Bambino Gesù Children Hospital, Rome, Italy.; Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, Sapienza University of Rome, Rome, Italy., Mandarino A; Child and Adolescent Neuropsychiatry Unit, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., Iarossi G; Department of Ophthalmology, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Chioma L; Endocrinology and Diabetology Unit, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., Dentici ML; Medical Genetics Unit, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Merla G; Laboratory of Regulatory & Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.; Department of Molecular Medicine & Medical Biotechnology, University of Naples Federico II, Naples, Italy., Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unity, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Micalizzi A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unity, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Mancini C; Molecular Genetics and Functional Genomics, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Niceta M; Molecular Genetics and Functional Genomics, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Macchiaiolo M; Rare Diseases and Medical Genetics Unit, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Diodato D; Neuromuscular and Neurodegenerative Disorders Unit, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Onesimo R; Rare Diseases Unit, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy.; Pediatric Unit, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy., Blandino R; Pediatric Unit, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy., Delogu AB; Pediatric Unit, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy., De Rosa G; Pediatric Unit, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy., Trevisan V; Rare Diseases Unit, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy., Iademarco M; Rare Diseases Unit, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy., Zampino G; Rare Diseases Unit, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy.; Pediatric Unit, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy.; Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Università Cattolica Sacro Cuore, Rome, Italy., Tartaglia M; Molecular Genetics and Functional Genomics, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unity, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Bartuli A; Rare Diseases and Medical Genetics Unit, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Digilio MC; Medical Genetics Unit, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Calcagni G; Department of Cardiac Surgery, Cardiology and Heart and Lung Transplant, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Jazyk: angličtina
Zdroj: Clinical genetics [Clin Genet] 2023 Nov; Vol. 104 (5), pp. 528-541. Date of Electronic Publication: 2023 Jul 17.
DOI: 10.1111/cge.14404
Abstrakt: CTNNB1 [OMIM *116806] encodes β-catenin, an integral part of the cadherin/catenin complex, which functions as effector of Wnt signaling. CTNNB1 is highly expressed in brain as well as in other tissues, including heart. Heterozygous CTNNB1 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 years), nine of whom bearing novel CTNNB1 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.
(© 2023 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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