Exonic deletions in GALC are frequent in Japanese globoid-cell leukodystrophy patients

Globoid-cell leukodystrophy is an autosomal-recessive lysosomal storage disorder. Single-base substitutions and small indel mutations in the GALC gene are common in Japanese patients. In this study, we identified three novel deletions, in exons 1, 8, and 11–12, in three patients using Multiplex Liga...

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Autores principales: Irahara-Miyana, Kaori, Enokizono, Takashi, Ozono, Keiichi, Sakai, Norio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6173723/
https://www.ncbi.nlm.nih.gov/pubmed/30323943
http://dx.doi.org/10.1038/s41439-018-0027-5
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author Irahara-Miyana, Kaori
Enokizono, Takashi
Ozono, Keiichi
Sakai, Norio
author_facet Irahara-Miyana, Kaori
Enokizono, Takashi
Ozono, Keiichi
Sakai, Norio
author_sort Irahara-Miyana, Kaori
collection PubMed
description Globoid-cell leukodystrophy is an autosomal-recessive lysosomal storage disorder. Single-base substitutions and small indel mutations in the GALC gene are common in Japanese patients. In this study, we identified three novel deletions, in exons 1, 8, and 11–12, in three patients using Multiplex Ligation-dependent Probe Amplification. We suggest that some patients in whom no or only a single pathogenic mutation is detected by Sanger sequencing may have exon deletions.
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spelling pubmed-61737232018-10-15 Exonic deletions in GALC are frequent in Japanese globoid-cell leukodystrophy patients Irahara-Miyana, Kaori Enokizono, Takashi Ozono, Keiichi Sakai, Norio Hum Genome Var Data Report Globoid-cell leukodystrophy is an autosomal-recessive lysosomal storage disorder. Single-base substitutions and small indel mutations in the GALC gene are common in Japanese patients. In this study, we identified three novel deletions, in exons 1, 8, and 11–12, in three patients using Multiplex Ligation-dependent Probe Amplification. We suggest that some patients in whom no or only a single pathogenic mutation is detected by Sanger sequencing may have exon deletions. Nature Publishing Group UK 2018-10-05 /pmc/articles/PMC6173723/ /pubmed/30323943 http://dx.doi.org/10.1038/s41439-018-0027-5 Text en © The Author(s) 2018 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/.
spellingShingle Data Report
Irahara-Miyana, Kaori
Enokizono, Takashi
Ozono, Keiichi
Sakai, Norio
Exonic deletions in GALC are frequent in Japanese globoid-cell leukodystrophy patients
title Exonic deletions in GALC are frequent in Japanese globoid-cell leukodystrophy patients
title_full Exonic deletions in GALC are frequent in Japanese globoid-cell leukodystrophy patients
title_fullStr Exonic deletions in GALC are frequent in Japanese globoid-cell leukodystrophy patients
title_full_unstemmed Exonic deletions in GALC are frequent in Japanese globoid-cell leukodystrophy patients
title_short Exonic deletions in GALC are frequent in Japanese globoid-cell leukodystrophy patients
title_sort exonic deletions in galc are frequent in japanese globoid-cell leukodystrophy patients
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6173723/
https://www.ncbi.nlm.nih.gov/pubmed/30323943
http://dx.doi.org/10.1038/s41439-018-0027-5
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