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Novel GJA1/Cx43 Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms

Oculodentodigital dysplasia syndrome is associated with numerous pathogenic variants in GJA1, the gene encoding connexin43 gap junction protein. A novel in-frame deletion (p.Lys134del) was found in our clinic. The patient showed all the typical dysmorphic features of the syndrome. The functional con...

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Autores principales: Sargiannidou, Irene, Christophidou-Anastasiadou, Violetta, Hadjisavvas, Andreas, Tanteles, George A., Kleopa, Kleopas A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7873484/
https://www.ncbi.nlm.nih.gov/pubmed/33584802
http://dx.doi.org/10.3389/fgene.2020.604806
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author Sargiannidou, Irene
Christophidou-Anastasiadou, Violetta
Hadjisavvas, Andreas
Tanteles, George A.
Kleopa, Kleopas A.
author_facet Sargiannidou, Irene
Christophidou-Anastasiadou, Violetta
Hadjisavvas, Andreas
Tanteles, George A.
Kleopa, Kleopas A.
author_sort Sargiannidou, Irene
collection PubMed
description Oculodentodigital dysplasia syndrome is associated with numerous pathogenic variants in GJA1, the gene encoding connexin43 gap junction protein. A novel in-frame deletion (p.Lys134del) was found in our clinic. The patient showed all the typical dysmorphic features of the syndrome. The functional consequences of this variant were also studied in an in vitro system. Cells expressed significantly less number of gap junction plaques with a great number of them retained intracellularly.
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spelling pubmed-78734842021-02-11 Novel GJA1/Cx43 Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms Sargiannidou, Irene Christophidou-Anastasiadou, Violetta Hadjisavvas, Andreas Tanteles, George A. Kleopa, Kleopas A. Front Genet Genetics Oculodentodigital dysplasia syndrome is associated with numerous pathogenic variants in GJA1, the gene encoding connexin43 gap junction protein. A novel in-frame deletion (p.Lys134del) was found in our clinic. The patient showed all the typical dysmorphic features of the syndrome. The functional consequences of this variant were also studied in an in vitro system. Cells expressed significantly less number of gap junction plaques with a great number of them retained intracellularly. Frontiers Media S.A. 2021-01-27 /pmc/articles/PMC7873484/ /pubmed/33584802 http://dx.doi.org/10.3389/fgene.2020.604806 Text en Copyright © 2021 Sargiannidou, Christophidou-Anastasiadou, Hadjisavvas, Tanteles and Kleopa. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). 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 Genetics
Sargiannidou, Irene
Christophidou-Anastasiadou, Violetta
Hadjisavvas, Andreas
Tanteles, George A.
Kleopa, Kleopas A.
Novel GJA1/Cx43 Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms
title Novel GJA1/Cx43 Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms
title_full Novel GJA1/Cx43 Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms
title_fullStr Novel GJA1/Cx43 Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms
title_full_unstemmed Novel GJA1/Cx43 Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms
title_short Novel GJA1/Cx43 Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms
title_sort novel gja1/cx43 variant associated with oculo-dento-digital dysplasia syndrome: clinical phenotype and cellular mechanisms
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7873484/
https://www.ncbi.nlm.nih.gov/pubmed/33584802
http://dx.doi.org/10.3389/fgene.2020.604806
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