Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease

Recently, altered PLP1 splicing was confirmed as a genetic cause of hypomyelination of early myelinating structures (HEMS). A novel deep intronic deletion in intron 3 of PLP1 (NM_000533.5: c.453+59_+259del) was identified, and an in vitro minigene assay detected abnormal splicing patterns. However,...

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Autores principales: Yamamoto-Shimojima, Keiko, Akagawa, Hiroyuki, Yanagi, Kumiko, Kaname, Tadashi, Okamoto, Nobuhiko, Yamamoto, Toshiyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8016919/
https://www.ncbi.nlm.nih.gov/pubmed/33795668
http://dx.doi.org/10.1038/s41439-021-00144-y
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author Yamamoto-Shimojima, Keiko
Akagawa, Hiroyuki
Yanagi, Kumiko
Kaname, Tadashi
Okamoto, Nobuhiko
Yamamoto, Toshiyuki
author_facet Yamamoto-Shimojima, Keiko
Akagawa, Hiroyuki
Yanagi, Kumiko
Kaname, Tadashi
Okamoto, Nobuhiko
Yamamoto, Toshiyuki
author_sort Yamamoto-Shimojima, Keiko
collection PubMed
description Recently, altered PLP1 splicing was confirmed as a genetic cause of hypomyelination of early myelinating structures (HEMS). A novel deep intronic deletion in intron 3 of PLP1 (NM_000533.5: c.453+59_+259del) was identified, and an in vitro minigene assay detected abnormal splicing patterns. However, the clinical and radiological findings of the patient were compatible with a severe phenotype of Pelizaeus-Merzbacher disease rather than HEMS, which may be due to undetected abnormal PLP1 splicing.
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spelling pubmed-80169192021-04-16 Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease Yamamoto-Shimojima, Keiko Akagawa, Hiroyuki Yanagi, Kumiko Kaname, Tadashi Okamoto, Nobuhiko Yamamoto, Toshiyuki Hum Genome Var Data Report Recently, altered PLP1 splicing was confirmed as a genetic cause of hypomyelination of early myelinating structures (HEMS). A novel deep intronic deletion in intron 3 of PLP1 (NM_000533.5: c.453+59_+259del) was identified, and an in vitro minigene assay detected abnormal splicing patterns. However, the clinical and radiological findings of the patient were compatible with a severe phenotype of Pelizaeus-Merzbacher disease rather than HEMS, which may be due to undetected abnormal PLP1 splicing. Nature Publishing Group UK 2021-04-01 /pmc/articles/PMC8016919/ /pubmed/33795668 http://dx.doi.org/10.1038/s41439-021-00144-y Text en © The Author(s) 2021 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
Yamamoto-Shimojima, Keiko
Akagawa, Hiroyuki
Yanagi, Kumiko
Kaname, Tadashi
Okamoto, Nobuhiko
Yamamoto, Toshiyuki
Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease
title Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease
title_full Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease
title_fullStr Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease
title_full_unstemmed Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease
title_short Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease
title_sort deep intronic deletion in intron 3 of plp1 is associated with a severe phenotype of pelizaeus-merzbacher disease
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8016919/
https://www.ncbi.nlm.nih.gov/pubmed/33795668
http://dx.doi.org/10.1038/s41439-021-00144-y
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