Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS) is a very rare autosomal recessive disorder. It has been reported that mutations in IARS2 are associated with this disease. IARS2 encodes the mitochondrial isoleucine-tRNA synthetase.
Response to: does IARS2 deficiency cause an intrinsic disorder of bone development (skeletal dysplasia) or are the reported skeletal changes secondary to growth hormone deficiency and neuromuscular involvement?
