Novel NARS2 variant causing leigh syndrome with normal lactate levels

Leigh syndrome is the most genetically heterogenous phenotype of mitochondrial disease. We describe a patient with Leigh syndrome whose diagnosis had not been confirmed because of normal metabolic screening results at the initial presentation. Whole-exome sequencing identified pathogenic variants in...

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Autores principales: Tanaka, Ryosuke, Takeguchi, Ryo, Kuroda, Mami, Suzuki, Nao, Makita, Yoshio, Yanagi, Kumiko, Kaname, Tadashi, Takahashi, Satoru
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/PMC9068749/
https://www.ncbi.nlm.nih.gov/pubmed/35508527
http://dx.doi.org/10.1038/s41439-022-00191-z
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author Tanaka, Ryosuke
Takeguchi, Ryo
Kuroda, Mami
Suzuki, Nao
Makita, Yoshio
Yanagi, Kumiko
Kaname, Tadashi
Takahashi, Satoru
author_facet Tanaka, Ryosuke
Takeguchi, Ryo
Kuroda, Mami
Suzuki, Nao
Makita, Yoshio
Yanagi, Kumiko
Kaname, Tadashi
Takahashi, Satoru
author_sort Tanaka, Ryosuke
collection PubMed
description Leigh syndrome is the most genetically heterogenous phenotype of mitochondrial disease. We describe a patient with Leigh syndrome whose diagnosis had not been confirmed because of normal metabolic screening results at the initial presentation. Whole-exome sequencing identified pathogenic variants in NARS2, the gene encoding a mitochondrial asparaginyl-tRNA synthetase. One of the biallelic variants was novel. This highlights the essential role of genetic testing for a definite diagnosis of Leigh syndrome.
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spelling pubmed-90687492022-05-05 Novel NARS2 variant causing leigh syndrome with normal lactate levels Tanaka, Ryosuke Takeguchi, Ryo Kuroda, Mami Suzuki, Nao Makita, Yoshio Yanagi, Kumiko Kaname, Tadashi Takahashi, Satoru Hum Genome Var Data Report Leigh syndrome is the most genetically heterogenous phenotype of mitochondrial disease. We describe a patient with Leigh syndrome whose diagnosis had not been confirmed because of normal metabolic screening results at the initial presentation. Whole-exome sequencing identified pathogenic variants in NARS2, the gene encoding a mitochondrial asparaginyl-tRNA synthetase. One of the biallelic variants was novel. This highlights the essential role of genetic testing for a definite diagnosis of Leigh syndrome. Nature Publishing Group UK 2022-05-04 /pmc/articles/PMC9068749/ /pubmed/35508527 http://dx.doi.org/10.1038/s41439-022-00191-z 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
Tanaka, Ryosuke
Takeguchi, Ryo
Kuroda, Mami
Suzuki, Nao
Makita, Yoshio
Yanagi, Kumiko
Kaname, Tadashi
Takahashi, Satoru
Novel NARS2 variant causing leigh syndrome with normal lactate levels
title Novel NARS2 variant causing leigh syndrome with normal lactate levels
title_full Novel NARS2 variant causing leigh syndrome with normal lactate levels
title_fullStr Novel NARS2 variant causing leigh syndrome with normal lactate levels
title_full_unstemmed Novel NARS2 variant causing leigh syndrome with normal lactate levels
title_short Novel NARS2 variant causing leigh syndrome with normal lactate levels
title_sort novel nars2 variant causing leigh syndrome with normal lactate levels
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9068749/
https://www.ncbi.nlm.nih.gov/pubmed/35508527
http://dx.doi.org/10.1038/s41439-022-00191-z
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