A novel VARS2 gene variant in a patient with epileptic encephalopathy. (2nd October 2019)

• Record Type: Journal Article
• Authors: Ruzman, Lucija; Kolic, Ivana; Radic Nisevic, Jelena; Ruzic Barsic, Antonija; Skarpa Prpic, Ingrid; Prpic, Igor
• Is Part Of: Upsala journal of medical sciences. Volume 124:Number 4(2019)
• Page Start: 273
• Page End: 277
• Publication Date: 2019-10-02
• Subjects: Encephalocardiomyopathy -- epileptic encephalopathy -- mitochondrial disease -- VARS2; Medicine -- Periodicals; Medicine -- Periodicals; Electronic journals; 610.5
• DOI: 10.1080/03009734.2019.1670297
• Languages: English
• ISSNs: 0300-9734

Abstract

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.