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A new pathogenic POLG variant

POLG gene mutations are the most common causes of inherited mitochondrial disorders. The enzyme produced by this gene is responsible for the replication and repair of mitochondrial DNA. To date, around 300 pathogenic variants have been described in this gene. The resulting clinical outcomes of POLG...

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Autores principales: Nicholas Russo, S., Shah, Ekta G., Copeland, William C., Koenig, Mary Kay
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9289853/
https://www.ncbi.nlm.nih.gov/pubmed/35860755
http://dx.doi.org/10.1016/j.ymgmr.2022.100890
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author Nicholas Russo, S.
Shah, Ekta G.
Copeland, William C.
Koenig, Mary Kay
author_facet Nicholas Russo, S.
Shah, Ekta G.
Copeland, William C.
Koenig, Mary Kay
author_sort Nicholas Russo, S.
collection PubMed
description POLG gene mutations are the most common causes of inherited mitochondrial disorders. The enzyme produced by this gene is responsible for the replication and repair of mitochondrial DNA. To date, around 300 pathogenic variants have been described in this gene. The resulting clinical outcomes of POLG mutations are widely variable in both phenotype and severity. There is considerable overlap in the phenotype of the so-called POLG syndromes with no clear genotype-phenotype correlation. Here we describe a newly discovered pathogenic variant in the POLG gene in a 7-year-old male that died of uncontrollable refractory status epilepticus. Genetic epilepsy panel sequencing identified two variants in the POLG gene, the common p.A467T pathological mutation and a novel p.S809R POLG variant found in trans with the p.A467T POLG that accompanied a severely reduced mitochondrial DNA level in the patient's tissues.
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spelling pubmed-92898532022-07-19 A new pathogenic POLG variant Nicholas Russo, S. Shah, Ekta G. Copeland, William C. Koenig, Mary Kay Mol Genet Metab Rep Case Report POLG gene mutations are the most common causes of inherited mitochondrial disorders. The enzyme produced by this gene is responsible for the replication and repair of mitochondrial DNA. To date, around 300 pathogenic variants have been described in this gene. The resulting clinical outcomes of POLG mutations are widely variable in both phenotype and severity. There is considerable overlap in the phenotype of the so-called POLG syndromes with no clear genotype-phenotype correlation. Here we describe a newly discovered pathogenic variant in the POLG gene in a 7-year-old male that died of uncontrollable refractory status epilepticus. Genetic epilepsy panel sequencing identified two variants in the POLG gene, the common p.A467T pathological mutation and a novel p.S809R POLG variant found in trans with the p.A467T POLG that accompanied a severely reduced mitochondrial DNA level in the patient's tissues. Elsevier 2022-07-12 /pmc/articles/PMC9289853/ /pubmed/35860755 http://dx.doi.org/10.1016/j.ymgmr.2022.100890 Text en © 2022 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Nicholas Russo, S.
Shah, Ekta G.
Copeland, William C.
Koenig, Mary Kay
A new pathogenic POLG variant
title A new pathogenic POLG variant
title_full A new pathogenic POLG variant
title_fullStr A new pathogenic POLG variant
title_full_unstemmed A new pathogenic POLG variant
title_short A new pathogenic POLG variant
title_sort new pathogenic polg variant
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9289853/
https://www.ncbi.nlm.nih.gov/pubmed/35860755
http://dx.doi.org/10.1016/j.ymgmr.2022.100890
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