IARS2 and cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome: Moreover, recently identified novel compound missense variants in IARS2 (c.680 T > C; p.(Phe227Ser) and c.2450G > A; p.(Arg817His)) have been reported in one family with two Japanese siblings showing milder symptoms of CAGSSS and West syndrome concomitant with Leigh syndrome [9].