CAGSSS syndrome

Definition:

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.

References:

[1]. Mark E Samuels, et al. 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?. Hum Mutat. 2015 Mar;36(3):389. [Content Brief]

[2]. Shahida Moosa, et al. Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2. Am J Med Genet A. 2017 Apr;173(4):1102-1108. [Content Brief]

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