Dilated aorta in CNOT3 -related neurodevelopmental disorder: 'expanding' the phenotype.

Autor:	Lau SHM; Lee Kong Chian School of Medicine , Nanyang Technological University., Jiin Ying L; Genetics Service, Department of Paediatrics , KK Women's and Children's Hospital.; SingHealth Duke-NUS Genomic Medicine Centre., Goh CYJ; Genetics Service, Department of Paediatrics , KK Women's and Children's Hospital.; SingHealth Duke-NUS Genomic Medicine Centre.; Division of Nursing - Nursing Clinical Service, KK Women's and Children's Hospital., Choo J; Cardiology Service, Department of Paediatric Subspecialties., Chow C; Paediatric Academic Clinical Programme, Duke-NUS Medical School.; Complex Care Service, Department of Paediatrics., Ling S; Paediatric Academic Clinical Programme, Duke-NUS Medical School.; Neurology Service, Department of Paediatrics., Ng YH; Paediatric Academic Clinical Programme, Duke-NUS Medical School.; Nephrology Service, Department of Paediatrics., Yi Hua T; Paediatric Academic Clinical Programme, Duke-NUS Medical School.; Respiratory Medicine Service, Department of Paediatrics , KK Women's and Children's Hospital., Teo JX; SingHealth Duke-NUS Genomic Medicine Centre.; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore., Chua KP; Pacific BioSciences, Menlo Park, California, USA., Chin M; Pacific BioSciences, Menlo Park, California, USA., Lim WK; SingHealth Duke-NUS Genomic Medicine Centre.; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore.; Singapore Cancer and Stem Cell Biology Program, Duke-NUS Medical School.; Singapore Laboratory of Genome Variation Analytics, Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore, Singapore., Jamuar SS; Genetics Service, Department of Paediatrics , KK Women's and Children's Hospital.; SingHealth Duke-NUS Genomic Medicine Centre.; Paediatric Academic Clinical Programme, Duke-NUS Medical School.; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore., Lai AHM; Lee Kong Chian School of Medicine , Nanyang Technological University.; Genetics Service, Department of Paediatrics , KK Women's and Children's Hospital.; SingHealth Duke-NUS Genomic Medicine Centre.; Paediatric Academic Clinical Programme, Duke-NUS Medical School., Goh JLK; Genetics Service, Department of Paediatrics , KK Women's and Children's Hospital.; SingHealth Duke-NUS Genomic Medicine Centre.
Jazyk:	angličtina
Zdroj:	Clinical dysmorphology [Clin Dysmorphol] 2024 Oct 01; Vol. 33 (4), pp. 176-182. Date of Electronic Publication: 2024 Sep 04.
DOI:	10.1097/MCD.0000000000000495
Abstrakt:	Introduction: Neurodevelopmental disorders (NDDs) comprise conditions that emerge during the child's development and contribute significantly to global health and economic burdens. De novo variants in CNOT3 have been linked to NDDs and understanding the genotype-phenotype relationship between CNOT3 and NDDs will aid in improving diagnosis and management. Methods: In this study, we report a case of a patient with CNOT3 -related NDD who presented with progressive aortic dilatation, a feature not reported previously. Results: Our patient presented with intellectual disorder, dysmorphic facial features, and cardiac anomalies, notably progressive aortic dilatation - a novel finding in CNOT3 -related NDD. Genetic testing identified a de novo 6.3 kbp intragenic deletion in CNOT3 , providing a possible genetic basis for her condition. Conclusion: This study presents the first case of CNOT3 -related NDD in Southeast Asia, expanding the phenotype to include progressive aortic dilatation and suggesting merit in cardiac surveillance of patients with CNOT3 -related NDD. It also emphasizes the importance of genetic testing in diagnosing complex NDD cases as well as reanalysis of 'negative' cases using advanced sequencing technologies to uncover potential hidden genetic etiologies in undiagnosed NDDs. (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)
Databáze:	MEDLINE
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