A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia

TUBB4A gene variants cause dystonia type 4 and hypomyelination with atrophy of the basal ganglia and cerebellum. We report the case of a child with delayed motor development, intellectual disability, and dystonia. Magnetic resonance imaging revealed hypomyelination and progressive cerebellar atrophy...

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Autores principales: Hashiguchi, Marina, Monden, Yukifumi, Nozaki, Yasuyuki, Watanabe, Kazuki, Nakashima, Mitsuko, Saitsu, Hirotomo, Yamagata, Takanori, Osaka, Hitoshi
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/PMC9166743/
https://www.ncbi.nlm.nih.gov/pubmed/35661708
http://dx.doi.org/10.1038/s41439-022-00198-6
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author Hashiguchi, Marina
Monden, Yukifumi
Nozaki, Yasuyuki
Watanabe, Kazuki
Nakashima, Mitsuko
Saitsu, Hirotomo
Yamagata, Takanori
Osaka, Hitoshi
author_facet Hashiguchi, Marina
Monden, Yukifumi
Nozaki, Yasuyuki
Watanabe, Kazuki
Nakashima, Mitsuko
Saitsu, Hirotomo
Yamagata, Takanori
Osaka, Hitoshi
author_sort Hashiguchi, Marina
collection PubMed
description TUBB4A gene variants cause dystonia type 4 and hypomyelination with atrophy of the basal ganglia and cerebellum. We report the case of a child with delayed motor development, intellectual disability, and dystonia. Magnetic resonance imaging revealed hypomyelination and progressive cerebellar atrophy without atrophy of the basal ganglia. Whole-exome sequencing revealed a de novo heterozygous variant, c.1088T > C, p.(Met363Thr), in TUBB4A. The present case further supports the vulnerability of the cerebellum in patients with TUBB4A pathogenic variants.
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spelling pubmed-91667432022-06-05 A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia Hashiguchi, Marina Monden, Yukifumi Nozaki, Yasuyuki Watanabe, Kazuki Nakashima, Mitsuko Saitsu, Hirotomo Yamagata, Takanori Osaka, Hitoshi Hum Genome Var Data Report TUBB4A gene variants cause dystonia type 4 and hypomyelination with atrophy of the basal ganglia and cerebellum. We report the case of a child with delayed motor development, intellectual disability, and dystonia. Magnetic resonance imaging revealed hypomyelination and progressive cerebellar atrophy without atrophy of the basal ganglia. Whole-exome sequencing revealed a de novo heterozygous variant, c.1088T > C, p.(Met363Thr), in TUBB4A. The present case further supports the vulnerability of the cerebellum in patients with TUBB4A pathogenic variants. Nature Publishing Group UK 2022-06-03 /pmc/articles/PMC9166743/ /pubmed/35661708 http://dx.doi.org/10.1038/s41439-022-00198-6 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
Hashiguchi, Marina
Monden, Yukifumi
Nozaki, Yasuyuki
Watanabe, Kazuki
Nakashima, Mitsuko
Saitsu, Hirotomo
Yamagata, Takanori
Osaka, Hitoshi
A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia
title A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia
title_full A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia
title_fullStr A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia
title_full_unstemmed A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia
title_short A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia
title_sort tubb4a met363thr variant in pediatric hypomyelination without atrophy of the basal ganglia
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9166743/
https://www.ncbi.nlm.nih.gov/pubmed/35661708
http://dx.doi.org/10.1038/s41439-022-00198-6
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