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Case report: “Major fetal cardiac pathology associated with a novel CTNND1 mutation”

BACKGROUND: The p120-ctn protein, encoded by CTNND1, is involved in intercellular connections and regulates epithelial–mesenchymal transformation. CTNND1 mutations can lead to blepharocheilodontic syndrome (BCDS). Increasing evidence shows that although BCDS mainly manifests as craniofacial and oral...

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Autores principales: Zhao, Xuliang, Li, Xu, Sun, Weiwei, Wei, Zhuojun, Yu, Min, Zhang, Man, Tian, Ruixia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10235691/
https://www.ncbi.nlm.nih.gov/pubmed/37274823
http://dx.doi.org/10.3389/fped.2023.1180381
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author Zhao, Xuliang
Li, Xu
Sun, Weiwei
Wei, Zhuojun
Yu, Min
Zhang, Man
Tian, Ruixia
author_facet Zhao, Xuliang
Li, Xu
Sun, Weiwei
Wei, Zhuojun
Yu, Min
Zhang, Man
Tian, Ruixia
author_sort Zhao, Xuliang
collection PubMed
description BACKGROUND: The p120-ctn protein, encoded by CTNND1, is involved in intercellular connections and regulates epithelial–mesenchymal transformation. CTNND1 mutations can lead to blepharocheilodontic syndrome (BCDS). Increasing evidence shows that although BCDS mainly manifests as craniofacial and oral deformities, it can also present as congenital heart disease, limb deformities, and neurodevelopmental disorders. CASE DESCRIPTION: We report a prenatal case of a major cardiac malformation at 24(+3) weeks of gestation. Ultrasound examination revealed a hypoplastic left ventricular, aortic coarctation, and a ventricular septal defect. Genetic analysis of the fetal tissues showed the presence of a novel mutation in CTNND1 (NM_001085458.2: c.566_c.567insG; p.Pro190fs*15), which may lead to premature termination of protein coding, while both the parents harbored wild-type CTNND1. To date, only 15 CTNND1 mutations have been reported in 19 patients worldwide, of which approximately 31% (6/19) had a cardiac phenotype. CONCLUSION: To the best of our knowledge, this is the first case report of fetal complicated cardiac malformations caused by this CTNND1 mutation. Our findings provide new clinical references for prenatal diagnosis and suggest an important role for CTNND1 in early cardiac development.
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spelling pubmed-102356912023-06-03 Case report: “Major fetal cardiac pathology associated with a novel CTNND1 mutation” Zhao, Xuliang Li, Xu Sun, Weiwei Wei, Zhuojun Yu, Min Zhang, Man Tian, Ruixia Front Pediatr Pediatrics BACKGROUND: The p120-ctn protein, encoded by CTNND1, is involved in intercellular connections and regulates epithelial–mesenchymal transformation. CTNND1 mutations can lead to blepharocheilodontic syndrome (BCDS). Increasing evidence shows that although BCDS mainly manifests as craniofacial and oral deformities, it can also present as congenital heart disease, limb deformities, and neurodevelopmental disorders. CASE DESCRIPTION: We report a prenatal case of a major cardiac malformation at 24(+3) weeks of gestation. Ultrasound examination revealed a hypoplastic left ventricular, aortic coarctation, and a ventricular septal defect. Genetic analysis of the fetal tissues showed the presence of a novel mutation in CTNND1 (NM_001085458.2: c.566_c.567insG; p.Pro190fs*15), which may lead to premature termination of protein coding, while both the parents harbored wild-type CTNND1. To date, only 15 CTNND1 mutations have been reported in 19 patients worldwide, of which approximately 31% (6/19) had a cardiac phenotype. CONCLUSION: To the best of our knowledge, this is the first case report of fetal complicated cardiac malformations caused by this CTNND1 mutation. Our findings provide new clinical references for prenatal diagnosis and suggest an important role for CTNND1 in early cardiac development. Frontiers Media S.A. 2023-05-19 /pmc/articles/PMC10235691/ /pubmed/37274823 http://dx.doi.org/10.3389/fped.2023.1180381 Text en © 2023 Zhao, Li, Sun, Wei, Yu, Zhang and Tian. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) (https://creativecommons.org/licenses/by/4.0/) . The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Zhao, Xuliang
Li, Xu
Sun, Weiwei
Wei, Zhuojun
Yu, Min
Zhang, Man
Tian, Ruixia
Case report: “Major fetal cardiac pathology associated with a novel CTNND1 mutation”
title Case report: “Major fetal cardiac pathology associated with a novel CTNND1 mutation”
title_full Case report: “Major fetal cardiac pathology associated with a novel CTNND1 mutation”
title_fullStr Case report: “Major fetal cardiac pathology associated with a novel CTNND1 mutation”
title_full_unstemmed Case report: “Major fetal cardiac pathology associated with a novel CTNND1 mutation”
title_short Case report: “Major fetal cardiac pathology associated with a novel CTNND1 mutation”
title_sort case report: “major fetal cardiac pathology associated with a novel ctnnd1 mutation”
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10235691/
https://www.ncbi.nlm.nih.gov/pubmed/37274823
http://dx.doi.org/10.3389/fped.2023.1180381
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