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VARS2 gene mutation leading to overall developmental delay in a child with epilepsy: A case report
BACKGROUND: The mitochondrial respiratory chain defects have become the most common cause of neurometabolic disorders in children and adults, which can occur at any time in life, often associated with neurological dysfunction, and lead to chronic disability and premature death. Approximately one-thi...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Baishideng Publishing Group Inc
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9453344/ https://www.ncbi.nlm.nih.gov/pubmed/36157797 http://dx.doi.org/10.12998/wjcc.v10.i24.8749 |
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author | Wu, Xiao-Hui Lin, Shuang-Zhu Zhou, Yan-Qiu Wang, Wan-Qi Li, Jia-Yi Chen, Qian-Dui |
author_facet | Wu, Xiao-Hui Lin, Shuang-Zhu Zhou, Yan-Qiu Wang, Wan-Qi Li, Jia-Yi Chen, Qian-Dui |
author_sort | Wu, Xiao-Hui |
collection | PubMed |
description | BACKGROUND: The mitochondrial respiratory chain defects have become the most common cause of neurometabolic disorders in children and adults, which can occur at any time in life, often associated with neurological dysfunction, and lead to chronic disability and premature death. Approximately one-third of patients with mitochondrial disease have biochemical defects involving multiple respiratory chain complexes, suggesting defects in protein synthesis within the mitochondria. We here report a child with VARS2 gene mutations causing mitochondrial disease. CASE SUMMARY: A girl, aged 3 years and 4 mo, had been unable to sit and crawl alone since birth, with obvious seizures and microcephaly. Brain magnetic resonance imaging showed symmetrical, flaky, long T1-weighted and low T2-weighted signals in the posterior part of the bilateral putamen with a high signal shadow. T2 fluid-attenuated inversion recovery imaging showed a slightly high signal and diffusion-weighted imaging showed an obvious high signal. Whole-exome gene sequencing revealed a compound heterozygous mutation in the VARS2 gene, c.1163(exon11)C>T and c.1940(exon20)C>T, which was derived from the parents. The child was diagnosed with combined oxidative phosphorylation deficiency type 20. CONCLUSION: In this patient, mitochondrial disorders including Leigh syndrome and MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) were ruled out, and combined oxidative phosphorylation deficiency type 20 was diagnosed, expanding the phenotypic spectrum of the disease. |
format | Online Article Text |
id | pubmed-9453344 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Baishideng Publishing Group Inc |
record_format | MEDLINE/PubMed |
spelling | pubmed-94533442022-09-23 VARS2 gene mutation leading to overall developmental delay in a child with epilepsy: A case report Wu, Xiao-Hui Lin, Shuang-Zhu Zhou, Yan-Qiu Wang, Wan-Qi Li, Jia-Yi Chen, Qian-Dui World J Clin Cases Case Report BACKGROUND: The mitochondrial respiratory chain defects have become the most common cause of neurometabolic disorders in children and adults, which can occur at any time in life, often associated with neurological dysfunction, and lead to chronic disability and premature death. Approximately one-third of patients with mitochondrial disease have biochemical defects involving multiple respiratory chain complexes, suggesting defects in protein synthesis within the mitochondria. We here report a child with VARS2 gene mutations causing mitochondrial disease. CASE SUMMARY: A girl, aged 3 years and 4 mo, had been unable to sit and crawl alone since birth, with obvious seizures and microcephaly. Brain magnetic resonance imaging showed symmetrical, flaky, long T1-weighted and low T2-weighted signals in the posterior part of the bilateral putamen with a high signal shadow. T2 fluid-attenuated inversion recovery imaging showed a slightly high signal and diffusion-weighted imaging showed an obvious high signal. Whole-exome gene sequencing revealed a compound heterozygous mutation in the VARS2 gene, c.1163(exon11)C>T and c.1940(exon20)C>T, which was derived from the parents. The child was diagnosed with combined oxidative phosphorylation deficiency type 20. CONCLUSION: In this patient, mitochondrial disorders including Leigh syndrome and MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) were ruled out, and combined oxidative phosphorylation deficiency type 20 was diagnosed, expanding the phenotypic spectrum of the disease. Baishideng Publishing Group Inc 2022-08-26 2022-08-26 /pmc/articles/PMC9453344/ /pubmed/36157797 http://dx.doi.org/10.12998/wjcc.v10.i24.8749 Text en ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved. https://creativecommons.org/licenses/by-nc/4.0/This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/ |
spellingShingle | Case Report Wu, Xiao-Hui Lin, Shuang-Zhu Zhou, Yan-Qiu Wang, Wan-Qi Li, Jia-Yi Chen, Qian-Dui VARS2 gene mutation leading to overall developmental delay in a child with epilepsy: A case report |
title |
VARS2 gene mutation leading to overall developmental delay in a child with epilepsy: A case report |
title_full |
VARS2 gene mutation leading to overall developmental delay in a child with epilepsy: A case report |
title_fullStr |
VARS2 gene mutation leading to overall developmental delay in a child with epilepsy: A case report |
title_full_unstemmed |
VARS2 gene mutation leading to overall developmental delay in a child with epilepsy: A case report |
title_short |
VARS2 gene mutation leading to overall developmental delay in a child with epilepsy: A case report |
title_sort | vars2 gene mutation leading to overall developmental delay in a child with epilepsy: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9453344/ https://www.ncbi.nlm.nih.gov/pubmed/36157797 http://dx.doi.org/10.12998/wjcc.v10.i24.8749 |
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