A novel VARS2 gene variant in a patient with epileptic encephalopathy (CROSBI ID 274661)
Prilog u časopisu | izvorni znanstveni rad | međunarodna recenzija
Podaci o odgovornosti
Ruzman, Lucija ; Kolic, Ivana ; Radic Nisevic, Jelena ; Ruzic Barsic, Antonija ; Skarpa Prpic, Ingrid ; Prpic, Igor
engleski
A novel VARS2 gene variant in a patient with epileptic encephalopathy
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
Encephalocardiomyopathy ; epileptic encephalopathy ; mitochondrial
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Podaci o izdanju
124 (4)
2019.
273-277
objavljeno
0300-9734
2000-1967
10.1080/03009734.2019.1670297
Povezanost rada
Kliničke medicinske znanosti