Open AccessA novel VARS2 gene variant in a patient with epileptic encephalopathy
Author(s) -
Lucija Ružman,
Ivana Kolić,
Jelena Radić Nišević,
Antonija Ružić Baršić,
Ingrid Škarpa Prpić,
Igor Prpić
Publication year - 2019
Publication title -
upsala journal of medical sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.808
H-Index - 41
eISSN - 2000-1967
pISSN - 0300-9734
DOI - 10.1080/03009734.2019.1670297
Subject(s) - medicine , frameshift mutation , microcephaly , encephalopathy , phenotype , epilepsy , respiratory chain , mitochondrial disease , mitochondrial respiratory chain , compound heterozygosity , pathology , gene , genetics , pediatrics , mitochondrion , mitochondrial dna , biology , psychiatry
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.