Mutations in the mitochondrial tRNA–aminotransferases for histidine and leucine, HARS2 and LARS2, cause the typical features of Perrault syndrome [21,30,82,83,84,85,86], while mutations in the mitochondrially encoded tRNA sequences trigger different and mostly neurodegenerative phenotypes, including progressive deafness [87]. Here, HARS2 is linked to Perrault syndrome.