A novel VARS2 gene variant in a patient with epileptic encephalopathy

  • Lucija Ruzman Child Neurology and Child Psychiatry Department, Pediatric Clinic, Clinical Hospital Center Rijeka, Rijeka, Croatia
  • Ivana Kolic Child Neurology and Child Psychiatry Department, Pediatric Clinic, Clinical Hospital Center Rijeka, Rijeka, Croatia
  • Jelena Radic Nisevic Child Neurology and Child Psychiatry Department, Pediatric Clinic, Clinical Hospital Center Rijeka, Rijeka, Croatia; University of Rijeka, School of Medicine Rijeka, Rijeka, Croatia
  • Antonija Ruzic Barsic Radiology Department, Thalassoterapia Opatija, Opatija, Croatia
  • Ingrid Skarpa Prpic Neurology Clinic, Clinical Hospital Center Rijeka, Rijeka, Croatia
  • Igor Prpic Child Neurology and Child Psychiatry Department, Pediatric Clinic, Clinical Hospital Center Rijeka, Rijeka, Croatia; University of Rijeka, School of Medicine Rijeka, Rijeka, Croatia
Keywords: Encephalocardiomyopathy, epileptic encephalopathy, mitochondrial disease, VARS2

Abstract

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.

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Published
2019-10-18
How to Cite
Ruzman, L., Kolic, I., Radic Nisevic, J., Ruzic Barsic, A., Skarpa Prpic, I., & Prpic, I. (2019). A novel VARS2 gene variant in a patient with epileptic encephalopathy. Upsala Journal of Medical Sciences, 124(4), 273–277. https://doi.org/10.1080/03009734.2019.1670297