Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy

Recessive dystrophic epidermolysis bullosa is a genetic collagen disorder characterized by skin fragility that leads to generalized severe blistering, wounds, and scarring. In this report, we present a patient with a novel COL7A1 homozygous nonsense variant, c.793C>T p.(Gln265*). Although the par...

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Autores principales: Niida, Yo, Kobayashi, Azusa, Togi, Sumihito, Ura, Hiroki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10661991/
https://www.ncbi.nlm.nih.gov/pubmed/37985760
http://dx.doi.org/10.1038/s41439-023-00257-6
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author Niida, Yo
Kobayashi, Azusa
Togi, Sumihito
Ura, Hiroki
author_facet Niida, Yo
Kobayashi, Azusa
Togi, Sumihito
Ura, Hiroki
author_sort Niida, Yo
collection PubMed
description Recessive dystrophic epidermolysis bullosa is a genetic collagen disorder characterized by skin fragility that leads to generalized severe blistering, wounds, and scarring. In this report, we present a patient with a novel COL7A1 homozygous nonsense variant, c.793C>T p.(Gln265*). Although the parents were not consanguineous, both were heterozygous carriers of the variant. Single nucleotide polymorphism (SNP) array analysis revealed an isodisomy area on 3p22.1p21.1, encompassing COL7A1, suggesting that the variant originated from a common ancestor.
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spelling pubmed-106619912023-11-20 Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy Niida, Yo Kobayashi, Azusa Togi, Sumihito Ura, Hiroki Hum Genome Var Data Report Recessive dystrophic epidermolysis bullosa is a genetic collagen disorder characterized by skin fragility that leads to generalized severe blistering, wounds, and scarring. In this report, we present a patient with a novel COL7A1 homozygous nonsense variant, c.793C>T p.(Gln265*). Although the parents were not consanguineous, both were heterozygous carriers of the variant. Single nucleotide polymorphism (SNP) array analysis revealed an isodisomy area on 3p22.1p21.1, encompassing COL7A1, suggesting that the variant originated from a common ancestor. Nature Publishing Group UK 2023-11-20 /pmc/articles/PMC10661991/ /pubmed/37985760 http://dx.doi.org/10.1038/s41439-023-00257-6 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Niida, Yo
Kobayashi, Azusa
Togi, Sumihito
Ura, Hiroki
Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy
title Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy
title_full Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy
title_fullStr Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy
title_full_unstemmed Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy
title_short Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy
title_sort recessive dystrophic epidermolysis bullosa caused by a novel col7a1 variant with isodisomy
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10661991/
https://www.ncbi.nlm.nih.gov/pubmed/37985760
http://dx.doi.org/10.1038/s41439-023-00257-6
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