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ARTS SYNDROME - DOAJ

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Last Updated: 12 October 2021

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Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene

Three professional phenotypes are connected with loss-of-function PRPS1 variants and lowered PRPS activity: Arts syndrome, Charcot-- Marie-- Tooth disease type 5, and nonsyndromic X-linked hearing problems. CMTX5 patients also show peripheral neuropathy and optic degeneration. Gain-of-function PRPS1 variants result in PRPS superactivity with hyperuricemia and gout. We report a 6-year-old kid that offered with significant generalised muscle hypotonia, worldwide developing hold-up, lack of speech, trunk instability, exercise intolerance, hypomimic face with open mouth, oropharyngeal dysphagia, dysarthria, and constant upper respiratory system infections. Product uric acid and urinary purine and pyrimidine metabolite degrees were normal. In final thought, we present a novel PRPS1 loss-of-function variant in a client with some medical features of Arts syndrome, however doing not have a major quality, hearing loss, which is congenital/early-onset in all various other reported Arts syndrome patients.

Source link: https://doi.org/10.1016/j.ymgmr.2020.100677


PRPS-Associated Disorders and the Drosophila Model of Arts Syndrome

While a plethora of hereditary methods have been established over the past century, modifying specific sequences of the fruit fly genome has been a hard, otherwise impossible job. In this evaluation, we will summarize recent findings on PRPS anomalies in human conditions including cancer and on the molecular mechanisms whereby PRPS activity is regulated. We will additionally talk about potential applications of Drosophila CRISPR/Cas9 to version PRPS-dependent conditions and other metabolic conditions that are related to nucleotide metabolic process.

Source link: https://doi.org/10.3390/ijms21144824

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions