A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome

Leigh syndrome (LS) is a heterogeneous neurodegenerative disorder caused by mitochondrial dysfunction. Certain LS cases have mutations in ECHS1, which encodes a short-chain enoyl-CoA hydratase involved in the metabolism of fatty acids and branched-chain amino acids in mitochondria. Using exome seque...

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Autores principales: Uchino, Shumpei, Iida, Aritoshi, Sato, Atsushi, Ishikawa, Keiko, Mimaki, Masakazu, Nishino, Ichizo, Goto, Yu-ichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6474858/
https://www.ncbi.nlm.nih.gov/pubmed/31016024
http://dx.doi.org/10.1038/s41439-019-0050-1
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author Uchino, Shumpei
Iida, Aritoshi
Sato, Atsushi
Ishikawa, Keiko
Mimaki, Masakazu
Nishino, Ichizo
Goto, Yu-ichi
author_facet Uchino, Shumpei
Iida, Aritoshi
Sato, Atsushi
Ishikawa, Keiko
Mimaki, Masakazu
Nishino, Ichizo
Goto, Yu-ichi
author_sort Uchino, Shumpei
collection PubMed
description Leigh syndrome (LS) is a heterogeneous neurodegenerative disorder caused by mitochondrial dysfunction. Certain LS cases have mutations in ECHS1, which encodes a short-chain enoyl-CoA hydratase involved in the metabolism of fatty acids and branched-chain amino acids in mitochondria. Using exome sequencing, we diagnosed a Japanese patient with LS and identified the patient as a compound heterozygote for a novel variant of ECHS1, consisting of NM_004092.4:c.23T>C (p.Leu8Pro) and NM_004092.4:c.176A>G (p.Asn59Ser).
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spelling pubmed-64748582019-04-23 A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome Uchino, Shumpei Iida, Aritoshi Sato, Atsushi Ishikawa, Keiko Mimaki, Masakazu Nishino, Ichizo Goto, Yu-ichi Hum Genome Var Data Report Leigh syndrome (LS) is a heterogeneous neurodegenerative disorder caused by mitochondrial dysfunction. Certain LS cases have mutations in ECHS1, which encodes a short-chain enoyl-CoA hydratase involved in the metabolism of fatty acids and branched-chain amino acids in mitochondria. Using exome sequencing, we diagnosed a Japanese patient with LS and identified the patient as a compound heterozygote for a novel variant of ECHS1, consisting of NM_004092.4:c.23T>C (p.Leu8Pro) and NM_004092.4:c.176A>G (p.Asn59Ser). Nature Publishing Group UK 2019-04-19 /pmc/articles/PMC6474858/ /pubmed/31016024 http://dx.doi.org/10.1038/s41439-019-0050-1 Text en © The Author(s) 2019 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/.
spellingShingle Data Report
Uchino, Shumpei
Iida, Aritoshi
Sato, Atsushi
Ishikawa, Keiko
Mimaki, Masakazu
Nishino, Ichizo
Goto, Yu-ichi
A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome
title A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome
title_full A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome
title_fullStr A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome
title_full_unstemmed A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome
title_short A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome
title_sort novel compound heterozygous variant of echs1 identified in a japanese patient with leigh syndrome
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6474858/
https://www.ncbi.nlm.nih.gov/pubmed/31016024
http://dx.doi.org/10.1038/s41439-019-0050-1
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