A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation

The mitochondrial aspartyl-tRNA synthetase 2 gene (DARS2) is responsible for leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). A Japanese patient with LBSL showed compound heterozygous DARS2 mutations c.358_359delinsTC (p.Gly120Ser) and c.228-15C>G (spli...

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Autores principales: Shimojima, Keiko, Higashiguchi, Takafumi, Kishimoto, Kanako, Miyatake, Satoko, Miyake, Noriko, Takanashi, Jun-ichi, Matsumoto, Naomichi, 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/PMC5678206/
https://www.ncbi.nlm.nih.gov/pubmed/29138691
http://dx.doi.org/10.1038/hgv.2017.51
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author Shimojima, Keiko
Higashiguchi, Takafumi
Kishimoto, Kanako
Miyatake, Satoko
Miyake, Noriko
Takanashi, Jun-ichi
Matsumoto, Naomichi
Yamamoto, Toshiyuki
author_facet Shimojima, Keiko
Higashiguchi, Takafumi
Kishimoto, Kanako
Miyatake, Satoko
Miyake, Noriko
Takanashi, Jun-ichi
Matsumoto, Naomichi
Yamamoto, Toshiyuki
author_sort Shimojima, Keiko
collection PubMed
description The mitochondrial aspartyl-tRNA synthetase 2 gene (DARS2) is responsible for leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). A Japanese patient with LBSL showed compound heterozygous DARS2 mutations c.358_359delinsTC (p.Gly120Ser) and c.228-15C>G (splicing error). This provides further evidence that most patients with LBSL show compound heterozygous mutations in DARS2 in association with a common splicing mutation in the splicing acceptor site of intron 2.
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spelling pubmed-56782062017-11-14 A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation Shimojima, Keiko Higashiguchi, Takafumi Kishimoto, Kanako Miyatake, Satoko Miyake, Noriko Takanashi, Jun-ichi Matsumoto, Naomichi Yamamoto, Toshiyuki Hum Genome Var Data Report The mitochondrial aspartyl-tRNA synthetase 2 gene (DARS2) is responsible for leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). A Japanese patient with LBSL showed compound heterozygous DARS2 mutations c.358_359delinsTC (p.Gly120Ser) and c.228-15C>G (splicing error). This provides further evidence that most patients with LBSL show compound heterozygous mutations in DARS2 in association with a common splicing mutation in the splicing acceptor site of intron 2. Nature Publishing Group 2017-11-09 /pmc/articles/PMC5678206/ /pubmed/29138691 http://dx.doi.org/10.1038/hgv.2017.51 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
Shimojima, Keiko
Higashiguchi, Takafumi
Kishimoto, Kanako
Miyatake, Satoko
Miyake, Noriko
Takanashi, Jun-ichi
Matsumoto, Naomichi
Yamamoto, Toshiyuki
A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation
title A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation
title_full A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation
title_fullStr A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation
title_full_unstemmed A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation
title_short A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation
title_sort novel dars2 mutation in a japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5678206/
https://www.ncbi.nlm.nih.gov/pubmed/29138691
http://dx.doi.org/10.1038/hgv.2017.51
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