A novel VARS2 gene variant in a patient with epileptic encephalopathy

Autor: Lucija Ruzman, Ivana Kolic, Jelena Radic Nisevic, Antonija Ruzic Barsic, Ingrid Skarpa Prpic, Igor Prpic
Jazyk: angličtina
Rok vydání: 2019
Předmět:
Zdroj: Upsala Journal of Medical Sciences, Vol 124, Iss 4, Pp 273-277 (2019)
Druh dokumentu: article
ISSN: 0300-9734
2000-1967
03009734
DOI: 10.1080/03009734.2019.1670297
Popis: 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.
Databáze: Directory of Open Access Journals
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