Majority of 37 human aminoacyl tRNA synthetases have been incriminated in diverse, mostly recessive, genetic diseases. In accordance with this, we uncovered a novel homozygous valyl-tRNA synthetase 1 (VARS1) gene variant, leading to mutation. As in the previously reported VARS1 mutations, the affected individual harboring was experiencing a neurodevelopmental disorder with intractable seizures, psychomotor retardation, and microcephaly. |