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GENATLAS PHENOTYPE
last update : 12-05-2010
Symbol ARTS
Location Xq22.3
Name ataxia, fatal, X-linked, with deafness and loss of vision
Corresponding gene PRPS1
Other symbol(s) MRXS18
Main clinical features
  • mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy
  • susceptibility to infections, especially of the upper respiratory tract, can result in early death
  • sural nerve biopsy showed mild paranodal demyelination, indicative of peripheral neuropathy (PMID: 20380929))
    • Genetic determination sex linked
    Function/system disorder neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function result in impaired purine biosynthesis, which is supported by the undetectable hypoxanthine in urine and the reduced uric acid levels in serum from patients
    Remark(s)
  • treatment with S-adenosylmethionine theoretically could have therapeutic efficacy
  • may be the same as MRXS8