Genetic mutations in IARS2 (OMIM: 612801) on chromosome 1q41 were first described in an extended French-Canadian family with a syndrome abbreviated CAGSSS that is characterised by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia [5]. This evidence concerns the gene IARS2 and cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome.