Cargando…
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...
Autores principales: | , , , , |
---|---|
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 |
_version_ | 1783649395576668160 |
---|---|
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. |
format | Online Article Text |
id | pubmed-7873484 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT sargiannidouirene novelgja1cx43variantassociatedwithoculodentodigitaldysplasiasyndromeclinicalphenotypeandcellularmechanisms AT christophidouanastasiadouvioletta novelgja1cx43variantassociatedwithoculodentodigitaldysplasiasyndromeclinicalphenotypeandcellularmechanisms AT hadjisavvasandreas novelgja1cx43variantassociatedwithoculodentodigitaldysplasiasyndromeclinicalphenotypeandcellularmechanisms AT tantelesgeorgea novelgja1cx43variantassociatedwithoculodentodigitaldysplasiasyndromeclinicalphenotypeandcellularmechanisms AT kleopakleopasa novelgja1cx43variantassociatedwithoculodentodigitaldysplasiasyndromeclinicalphenotypeandcellularmechanisms |