Naslov
A novel VARS2 gene variant in a patient with epileptic encephalopathy

Autori
Ruzman, Lucija ; Kolic, Ivana ; Radic Nisevic, Jelena ; Ruzic Barsic, Antonija ; Skarpa Prpic, Ingrid ; Prpic, Igor

Izvornik
Upsala Journal of Medical Sciences (0300-9734) 124 (2019), 4; 273-277

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Encephalocardiomyopathy ; epileptic encephalopathy ; mitochondrial

Sažetak
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

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA