Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy

Novel PLA2G6 mutations associated with p.Asp283Asn and a unique intragenic deletion of exons 4 and 5 due to non-allelic homologous recombination were identified in a Japanese female patient with typical infantile neuroaxonal dystrophy. The patient showed progressive tetraplegia beginning at 9 months...

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Autores principales: Yamamoto, Toshiyuki, Shimojima, Keiko, Shibata, Takashi, Akiyama, Mari, Oka, Makio, Akiyama, Tomoyuki, Yoshinaga, Harumi, Kobayashi, Katsuhiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785535/
https://www.ncbi.nlm.nih.gov/pubmed/27081553
http://dx.doi.org/10.1038/hgv.2015.48
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author Yamamoto, Toshiyuki
Shimojima, Keiko
Shibata, Takashi
Akiyama, Mari
Oka, Makio
Akiyama, Tomoyuki
Yoshinaga, Harumi
Kobayashi, Katsuhiro
author_facet Yamamoto, Toshiyuki
Shimojima, Keiko
Shibata, Takashi
Akiyama, Mari
Oka, Makio
Akiyama, Tomoyuki
Yoshinaga, Harumi
Kobayashi, Katsuhiro
author_sort Yamamoto, Toshiyuki
collection PubMed
description Novel PLA2G6 mutations associated with p.Asp283Asn and a unique intragenic deletion of exons 4 and 5 due to non-allelic homologous recombination were identified in a Japanese female patient with typical infantile neuroaxonal dystrophy. The patient showed progressive tetraplegia beginning at 9 months. An electroencephalogram showed a diffuse increase in fast waves, and brain magnetic resonance imaging showed progressive brain atrophy and T2 hypointensity in the globus pallidus.
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spelling pubmed-47855352016-04-14 Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy Yamamoto, Toshiyuki Shimojima, Keiko Shibata, Takashi Akiyama, Mari Oka, Makio Akiyama, Tomoyuki Yoshinaga, Harumi Kobayashi, Katsuhiro Hum Genome Var Data Report Novel PLA2G6 mutations associated with p.Asp283Asn and a unique intragenic deletion of exons 4 and 5 due to non-allelic homologous recombination were identified in a Japanese female patient with typical infantile neuroaxonal dystrophy. The patient showed progressive tetraplegia beginning at 9 months. An electroencephalogram showed a diffuse increase in fast waves, and brain magnetic resonance imaging showed progressive brain atrophy and T2 hypointensity in the globus pallidus. Nature Publishing Group 2015-11-19 /pmc/articles/PMC4785535/ /pubmed/27081553 http://dx.doi.org/10.1038/hgv.2015.48 Text en Copyright © 2015 Official journal of the Japan Society of Human Genetics 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
Yamamoto, Toshiyuki
Shimojima, Keiko
Shibata, Takashi
Akiyama, Mari
Oka, Makio
Akiyama, Tomoyuki
Yoshinaga, Harumi
Kobayashi, Katsuhiro
Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy
title Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy
title_full Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy
title_fullStr Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy
title_full_unstemmed Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy
title_short Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy
title_sort novel pla2g6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785535/
https://www.ncbi.nlm.nih.gov/pubmed/27081553
http://dx.doi.org/10.1038/hgv.2015.48
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