Two novel heterozygous variants in ATP1A3 cause movement disorders

Variants in ATP1A3 cause neuropsychiatric disorders, especially those characterized by movement disorders. In this study, we performed whole exome sequencing for two patients with movement disorders and identified two novel heterozygous ATP1A3 variants, a missense c.2408G>A variant and an indel c...

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Autores principales: Furukawa, Shogo, Miyamoto, Sachiko, Fukumura, Shinobu, Kubota, Kazuo, Taga, Toshiaki, Nakashima, Mitsuko, Saitsu, Hirotomo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8857201/
https://www.ncbi.nlm.nih.gov/pubmed/35181663
http://dx.doi.org/10.1038/s41439-022-00184-y
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author Furukawa, Shogo
Miyamoto, Sachiko
Fukumura, Shinobu
Kubota, Kazuo
Taga, Toshiaki
Nakashima, Mitsuko
Saitsu, Hirotomo
author_facet Furukawa, Shogo
Miyamoto, Sachiko
Fukumura, Shinobu
Kubota, Kazuo
Taga, Toshiaki
Nakashima, Mitsuko
Saitsu, Hirotomo
author_sort Furukawa, Shogo
collection PubMed
description Variants in ATP1A3 cause neuropsychiatric disorders, especially those characterized by movement disorders. In this study, we performed whole exome sequencing for two patients with movement disorders and identified two novel heterozygous ATP1A3 variants, a missense c.2408G>A variant and an indel c.2672_2688+10delinsCAG variant. The unique indel variant occurred at the exon-intron boundary at the 3′ end of exon 19, and mRNA analysis revealed that this variant caused in-frame indel alteration at the Ser891_Trp896 residue.
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spelling pubmed-88572012022-03-03 Two novel heterozygous variants in ATP1A3 cause movement disorders Furukawa, Shogo Miyamoto, Sachiko Fukumura, Shinobu Kubota, Kazuo Taga, Toshiaki Nakashima, Mitsuko Saitsu, Hirotomo Hum Genome Var Data Report Variants in ATP1A3 cause neuropsychiatric disorders, especially those characterized by movement disorders. In this study, we performed whole exome sequencing for two patients with movement disorders and identified two novel heterozygous ATP1A3 variants, a missense c.2408G>A variant and an indel c.2672_2688+10delinsCAG variant. The unique indel variant occurred at the exon-intron boundary at the 3′ end of exon 19, and mRNA analysis revealed that this variant caused in-frame indel alteration at the Ser891_Trp896 residue. Nature Publishing Group UK 2022-02-18 /pmc/articles/PMC8857201/ /pubmed/35181663 http://dx.doi.org/10.1038/s41439-022-00184-y Text en © The Author(s) 2022 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
Furukawa, Shogo
Miyamoto, Sachiko
Fukumura, Shinobu
Kubota, Kazuo
Taga, Toshiaki
Nakashima, Mitsuko
Saitsu, Hirotomo
Two novel heterozygous variants in ATP1A3 cause movement disorders
title Two novel heterozygous variants in ATP1A3 cause movement disorders
title_full Two novel heterozygous variants in ATP1A3 cause movement disorders
title_fullStr Two novel heterozygous variants in ATP1A3 cause movement disorders
title_full_unstemmed Two novel heterozygous variants in ATP1A3 cause movement disorders
title_short Two novel heterozygous variants in ATP1A3 cause movement disorders
title_sort two novel heterozygous variants in atp1a3 cause movement disorders
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8857201/
https://www.ncbi.nlm.nih.gov/pubmed/35181663
http://dx.doi.org/10.1038/s41439-022-00184-y
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