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Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China
Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) caused by mutations in GTPBP3 gene is a rare mitochondrial disease, and this disorder identified from the Chinese population has not been described thus far. Here, we report a case series of three patients with COXPD23 caused by GTPBP3 mutat...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2021
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8281222/ https://www.ncbi.nlm.nih.gov/pubmed/34276756 http://dx.doi.org/10.3389/fgene.2021.611226 |
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author | Yan, Hui-ming Liu, Zhi-mei Cao, Bei Zhang, Victor Wei He, Yi-duo Jia, Zheng-jun Xi, Hui Liu, Jing Fang, Fang Wang, Hua |
author_facet | Yan, Hui-ming Liu, Zhi-mei Cao, Bei Zhang, Victor Wei He, Yi-duo Jia, Zheng-jun Xi, Hui Liu, Jing Fang, Fang Wang, Hua |
author_sort | Yan, Hui-ming |
collection | PubMed |
description | Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) caused by mutations in GTPBP3 gene is a rare mitochondrial disease, and this disorder identified from the Chinese population has not been described thus far. Here, we report a case series of three patients with COXPD23 caused by GTPBP3 mutations, from a severe to a mild phenotype. The main clinical features of these patients include lactic acidosis, myocardial damage, and neurologic symptoms. Whole genome sequencing and targeted panels of candidate human mitochondrial genome revealed that patient 1 was a compound heterozygote with novel mutations c.413C > T (p. A138V) and c.509_510del (p. E170Gfs(∗)42) in GTPBP3. Patient 2 was a compound heterozygote with novel mutations c.544G > T (p. G182X) and c.785A > C (p.Q262P), while patient 3 was a compound heterozygote with a previously reported mutation c.424G > A (p.E142K) and novel mutation c.785A > C (p.Q262P). In conclusion, we first describe three Chinese individuals with COXPD23, and discuss the genotype-phenotype correlations of GTPBP3 mutations. Our findings provide novel information in the diagnosis and genetic counseling of patients with mitochondrial disease. |
format | Online Article Text |
id | pubmed-8281222 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-82812222021-07-16 Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China Yan, Hui-ming Liu, Zhi-mei Cao, Bei Zhang, Victor Wei He, Yi-duo Jia, Zheng-jun Xi, Hui Liu, Jing Fang, Fang Wang, Hua Front Genet Genetics Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) caused by mutations in GTPBP3 gene is a rare mitochondrial disease, and this disorder identified from the Chinese population has not been described thus far. Here, we report a case series of three patients with COXPD23 caused by GTPBP3 mutations, from a severe to a mild phenotype. The main clinical features of these patients include lactic acidosis, myocardial damage, and neurologic symptoms. Whole genome sequencing and targeted panels of candidate human mitochondrial genome revealed that patient 1 was a compound heterozygote with novel mutations c.413C > T (p. A138V) and c.509_510del (p. E170Gfs(∗)42) in GTPBP3. Patient 2 was a compound heterozygote with novel mutations c.544G > T (p. G182X) and c.785A > C (p.Q262P), while patient 3 was a compound heterozygote with a previously reported mutation c.424G > A (p.E142K) and novel mutation c.785A > C (p.Q262P). In conclusion, we first describe three Chinese individuals with COXPD23, and discuss the genotype-phenotype correlations of GTPBP3 mutations. Our findings provide novel information in the diagnosis and genetic counseling of patients with mitochondrial disease. Frontiers Media S.A. 2021-07-01 /pmc/articles/PMC8281222/ /pubmed/34276756 http://dx.doi.org/10.3389/fgene.2021.611226 Text en Copyright © 2021 Yan, Liu, Cao, Zhang, He, Jia, Xi, Liu, Fang and Wang. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Genetics Yan, Hui-ming Liu, Zhi-mei Cao, Bei Zhang, Victor Wei He, Yi-duo Jia, Zheng-jun Xi, Hui Liu, Jing Fang, Fang Wang, Hua Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China |
title | Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China |
title_full | Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China |
title_fullStr | Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China |
title_full_unstemmed | Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China |
title_short | Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China |
title_sort | novel mutations in the gtpbp3 gene for mitochondrial disease and characteristics of related phenotypic spectrum: the first three cases from china |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8281222/ https://www.ncbi.nlm.nih.gov/pubmed/34276756 http://dx.doi.org/10.3389/fgene.2021.611226 |
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