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3 clinical phenotypes are connected with loss-of-function PRPS1 versions and reduced PRPS task: Arts syndrome, Charcot-Marie-Tooth disease type 5, and nonsyndromic X-linked hearing problems. CMTX5 patients reveal peripheral neuropathy and optic atrophy. Gain-of-function PRPS1 versions result in PRPS superactivity with hyperuricemia and gout pain. We report a 6-year-old child who provided with significant generalised muscular hypotonia, international developmental hold-up, lack of speech, trunk instability, exercise intolerance, hypomimic face with open mouth, oropharyngeal dysphagia, dysarthria, and regular upper respiratory tract infections. An unique hemizygous variant, c. 130A > G p. , was located in the PRPS1 gene by panel sequencing. Serum uric acid and urinary purine and pyrimidine metabolite degrees were normal. Finally, we provide a novel PRPS1 loss-of-function variant in a client with some professional functions of Arts syndrome, however lacking a major quality, hearing loss, which is congenital/early-onset in all other reported Arts syndrome patients.
Source link: https://europepmc.org/article/MED/33294372
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