Compound heterozygous mutation of the IARS2 gene: a rare cause of Leigh Syndrome

Described in 2005 by Bonnefond, L. et al, IARS2 (OMIM 612801) is a mitochondrial isoleucyl-tRNA synthetase encoded the nucleus. Phenotypically, mutation expressed broad clinical spectrum, which includes Leigh Syndrome (LS) as well extra-neurological effects. We described 7-year-old boy who presented global developmental delay, hypotonia and epilepsy, evolving with epileptic encephalopathy. An MRI showed diffuse brain atrophy areas of capsular changes bilaterally, while exome compound heterozygous gene, probable pathogenic variant inherited from mother - p.[(Arg201His)], father p.[(Trp520*)]. In literature, we found 11 cases patients phenotypically LS gene. This report shows patient variants never heterozygosity, reinforcing hypothesis association gene this syndrome.