A novel VARS2 gene variant in a patient with epileptic encephalopathy
Background: Mitochondrial disorders are heterogeneous clinical syndromes caused by defective activity in the mitochondrial respiratory chain, resulting in a faulty oxidative phosphorylation system. These inherited disorders are individually rare, and furthermore they are phenotypic variables. The ge...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Upsala Medical Society
2019-10-01
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| Series: | Upsala Journal of Medical Sciences |
| Subjects: | |
| Online Access: | http://dx.doi.org/10.1080/03009734.2019.1670297 |
| _version_ | 1797716918255222784 |
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| author | Lucija Ruzman Ivana Kolic Jelena Radic Nisevic Antonija Ruzic Barsic Ingrid Skarpa Prpic Igor Prpic |
| author_facet | Lucija Ruzman Ivana Kolic Jelena Radic Nisevic Antonija Ruzic Barsic Ingrid Skarpa Prpic Igor Prpic |
| author_sort | Lucija Ruzman |
| collection | DOAJ |
| description | Background: Mitochondrial disorders are heterogeneous clinical syndromes caused by defective activity in the mitochondrial respiratory chain, resulting in a faulty oxidative phosphorylation system. These inherited disorders are individually rare, and furthermore they are phenotypic variables. The genetically characterized mitochondrial disorders are rarely associated with epileptic encephalopathies. Case presentation: We present the clinical phenotype, biochemical analysis, and electrographic and neuro-radiological features of a 5-month-old girl with epileptic encephalopathy, microcephaly, severe psychomotor delay, hypertrophic cardiomyopathy, and abnormal MRI scan. Using whole-genome sequencing technique, compound heterozygous mutations of the VARS2 gene were revealed, with one previously unreported frameshift mutation. Conclusion: Our report extends the phenotypic spectrum of VARS2-related disorders with an initial presentation of epileptic encephalopathy and early death due to malignant arrhythmia. |
| first_indexed | 2024-03-12T08:28:36Z |
| format | Article |
| id | doaj.art-41b2b4f82f384be581de0f99110d3ece |
| institution | Directory Open Access Journal |
| issn | 0300-9734 2000-1967 |
| language | English |
| last_indexed | 2024-03-12T08:28:36Z |
| publishDate | 2019-10-01 |
| publisher | Upsala Medical Society |
| record_format | Article |
| series | Upsala Journal of Medical Sciences |
| spelling | doaj.art-41b2b4f82f384be581de0f99110d3ece2023-09-02T17:56:00ZengUpsala Medical SocietyUpsala Journal of Medical Sciences0300-97342000-19672019-10-01124427327710.1080/03009734.2019.16702971670297A novel VARS2 gene variant in a patient with epileptic encephalopathyLucija Ruzman0Ivana Kolic1Jelena Radic Nisevic2Antonija Ruzic Barsic3Ingrid Skarpa Prpic4Igor Prpic5Pediatric Clinic, Clinical Hospital Center RijekaPediatric Clinic, Clinical Hospital Center RijekaPediatric Clinic, Clinical Hospital Center RijekaThalassoterapia OpatijaNeurology Clinic, Clinical Hospital Center RijekaPediatric Clinic, Clinical Hospital Center RijekaBackground: Mitochondrial disorders are heterogeneous clinical syndromes caused by defective activity in the mitochondrial respiratory chain, resulting in a faulty oxidative phosphorylation system. These inherited disorders are individually rare, and furthermore they are phenotypic variables. The genetically characterized mitochondrial disorders are rarely associated with epileptic encephalopathies. Case presentation: We present the clinical phenotype, biochemical analysis, and electrographic and neuro-radiological features of a 5-month-old girl with epileptic encephalopathy, microcephaly, severe psychomotor delay, hypertrophic cardiomyopathy, and abnormal MRI scan. Using whole-genome sequencing technique, compound heterozygous mutations of the VARS2 gene were revealed, with one previously unreported frameshift mutation. Conclusion: Our report extends the phenotypic spectrum of VARS2-related disorders with an initial presentation of epileptic encephalopathy and early death due to malignant arrhythmia.http://dx.doi.org/10.1080/03009734.2019.1670297encephalocardiomyopathyepileptic encephalopathymitochondrial diseasevars2 |
| spellingShingle | Lucija Ruzman Ivana Kolic Jelena Radic Nisevic Antonija Ruzic Barsic Ingrid Skarpa Prpic Igor Prpic A novel VARS2 gene variant in a patient with epileptic encephalopathy Upsala Journal of Medical Sciences encephalocardiomyopathy epileptic encephalopathy mitochondrial disease vars2 |
| title | A novel VARS2 gene variant in a patient with epileptic encephalopathy |
| title_full | A novel VARS2 gene variant in a patient with epileptic encephalopathy |
| title_fullStr | A novel VARS2 gene variant in a patient with epileptic encephalopathy |
| title_full_unstemmed | A novel VARS2 gene variant in a patient with epileptic encephalopathy |
| title_short | A novel VARS2 gene variant in a patient with epileptic encephalopathy |
| title_sort | novel vars2 gene variant in a patient with epileptic encephalopathy |
| topic | encephalocardiomyopathy epileptic encephalopathy mitochondrial disease vars2 |
| url | http://dx.doi.org/10.1080/03009734.2019.1670297 |
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