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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2022-09-01
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| Series: | Molecular Genetics and Metabolism Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426922000507 |
| _version_ | 1798042301152362496 |
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| author | S. Nicholas Russo Ekta G. Shah William C. Copeland Mary Kay Koenig |
| author_facet | S. Nicholas Russo Ekta G. Shah William C. Copeland Mary Kay Koenig |
| author_sort | S. Nicholas Russo |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-04-11T22:33:37Z |
| format | Article |
| id | doaj.art-104fd6eb742d499a956369e450d84828 |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-04-11T22:33:37Z |
| publishDate | 2022-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-104fd6eb742d499a956369e450d848282022-12-22T03:59:16ZengElsevierMolecular Genetics and Metabolism Reports2214-42692022-09-0132100890A new pathogenic POLG variantS. Nicholas Russo0Ekta G. Shah1William C. Copeland2Mary Kay Koenig3The University of Texas McGovern Medical School, Department of Pediatrics, Division of Child and Adolescent Neurology, Houston, TX, USA; Center for the Treatment of Pediatric Neurodegenerative Disease, The University of Texas McGovern Medical School, Houston, TX, United States of America; Corresponding author at: The University of Texas McGovern Medical School, 6410 Fannin Street, Suite 1535, Houston, TX 77030, USA.The University of Texas McGovern Medical School, Department of Pediatrics, Division of Child and Adolescent Neurology, Houston, TX, USAMitochondrial DNA Replication Group, Genome Integrity and Structural Biology Laboratory, National Institute of Health, Research Triangle Park, NC, USAThe University of Texas McGovern Medical School, Department of Pediatrics, Division of Child and Adolescent Neurology, Houston, TX, USA; Center for the Treatment of Pediatric Neurodegenerative Disease, The University of Texas McGovern Medical School, Houston, TX, United States of AmericaPOLG 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.http://www.sciencedirect.com/science/article/pii/S2214426922000507MitochondriaMitochondrial depletionAlpers-Huttenlocher syndromeDNA polymerase gammaPOLG syndrome |
| spellingShingle | S. Nicholas Russo Ekta G. Shah William C. Copeland Mary Kay Koenig A new pathogenic POLG variant Molecular Genetics and Metabolism Reports Mitochondria Mitochondrial depletion Alpers-Huttenlocher syndrome DNA polymerase gamma POLG syndrome |
| 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 | Mitochondria Mitochondrial depletion Alpers-Huttenlocher syndrome DNA polymerase gamma POLG syndrome |
| url | http://www.sciencedirect.com/science/article/pii/S2214426922000507 |
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