Arts syndrome
Definition:
Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, delayed motor development, ataxia, congenital sensorineural hearing impairment, and optic atrophy. Patients with Arts syndrome also have an impaired immune system due to impaired hematopoietic differentiation. The causative gene is PRPS1 on the X chromosome that is essential for de novo purine and pyrimidine synthesis.
References:
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[1]. Arjan P M de Brouwer, et al. Arts syndrome is caused by loss-of-function mutations in PRPS1. Am J Hum Genet. 2007 Sep;81(3):507-18. [Content Brief]
[2]. Arjan P M de Brouwer, et al. PRPS1 mutations: four distinct syndromes and potential treatment. Am J Hum Genet. 2010 Apr 9;86(4):506-18. [Content Brief]
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