A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence

The tubulin beta-4A gene (TUBB4A) is associated with two different clinical conditions, dystonia type 4 (DYT4) and hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). We identified a novel TUBB4A mutation, c.286G>A (p.G96R), in an adult male patient who suffered neurological...

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Autores principales: Lu, Yongping, Ondo, Yumiko, Shimojima, Keiko, Osaka, Hitoshi, Yamamoto, Toshiyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5540734/
https://www.ncbi.nlm.nih.gov/pubmed/28791129
http://dx.doi.org/10.1038/hgv.2017.35
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author Lu, Yongping
Ondo, Yumiko
Shimojima, Keiko
Osaka, Hitoshi
Yamamoto, Toshiyuki
author_facet Lu, Yongping
Ondo, Yumiko
Shimojima, Keiko
Osaka, Hitoshi
Yamamoto, Toshiyuki
author_sort Lu, Yongping
collection PubMed
description The tubulin beta-4A gene (TUBB4A) is associated with two different clinical conditions, dystonia type 4 (DYT4) and hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). We identified a novel TUBB4A mutation, c.286G>A (p.G96R), in an adult male patient who suffered neurological symptoms beyond adolescence. This patient shows intermediate clinical features between DYT4 and H-ABC, suggesting that the TUBB4A disorder would constitute a spectrum disorder.
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spelling pubmed-55407342017-08-08 A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence Lu, Yongping Ondo, Yumiko Shimojima, Keiko Osaka, Hitoshi Yamamoto, Toshiyuki Hum Genome Var Data Report The tubulin beta-4A gene (TUBB4A) is associated with two different clinical conditions, dystonia type 4 (DYT4) and hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). We identified a novel TUBB4A mutation, c.286G>A (p.G96R), in an adult male patient who suffered neurological symptoms beyond adolescence. This patient shows intermediate clinical features between DYT4 and H-ABC, suggesting that the TUBB4A disorder would constitute a spectrum disorder. Nature Publishing Group 2017-08-03 /pmc/articles/PMC5540734/ /pubmed/28791129 http://dx.doi.org/10.1038/hgv.2017.35 Text en Copyright © 2017 The Author(s) http://creativecommons.org/licenses/by-nc-sa/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/
spellingShingle Data Report
Lu, Yongping
Ondo, Yumiko
Shimojima, Keiko
Osaka, Hitoshi
Yamamoto, Toshiyuki
A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence
title A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence
title_full A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence
title_fullStr A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence
title_full_unstemmed A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence
title_short A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence
title_sort novel tubb4a mutation g96r identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5540734/
https://www.ncbi.nlm.nih.gov/pubmed/28791129
http://dx.doi.org/10.1038/hgv.2017.35
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