RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia

作者：Nishri Daniella; Goldberg Stern Hadassa; Noyman Iris; Blumkin Lubou; Kivity Sara; Saitsu Hirotomo; Nakashima Mitsuko; Matsumoto Naomichi; Leshinsky Silver Esther; Lerman Sagie Tally; Lev Dorit^*

来源：European Journal of Paediatric Neurology, 2016, 20(3): 412-417.

DOI：10.1016/j.ejpn.2016.02.012

• Epileptic encephalopathy
• RARS2
• Mitochondrial
• Pontocerebellar hypoplasia

Introduction: Early onset epileptic encephalopathies (EOEEs) are a group of devastating diseases, manifesting in the first year of life with frequent seizures and/or prominent interictal epileptiform discharges on the electroencephalogram, developmental delay or regression and usually a poor prognosis. There are numerous causes for EOEEs making the diagnostic workup time consuming and costly.
Methods: We describe two siblings with fatal EOEE, profound global developmental delay and post-natal microcephaly that underwent extensive biochemical and metabolic workup in vain. Neuro-imaging disclosed non-specific progressive cerebral atrophy.
Results: Whole-exome sequencing (WES) disclosed compound heterozygous mutations in the gene encoding for mitochondrial arginyl-transfer RNA synthetase, RARS2. This gene has been previously described as the cause of pontocerebellar hypoplasia type 6.
Conclusion: We suggest that RARS2 gene mutations can cause a metabolic neurodegenerative disease manifesting primarily as EOEE with post-natal microcephaly, without the distinctive radiological features of pontocerebellar hypoplasia.

• 出版日期2016-5
• 单位河北医科大学