Arts syndrome with a novel missense mutation in the PRPS1 gene: A case report

Brain Dev. 2016 Nov;38(10):954-958. doi: 10.1016/j.braindev.2016.05.003. Epub 2016 May 30.


Arts syndrome is characterized by early-onset hypotonia, ataxia, intellectual disability, sensorineural hearing impairment, progressive optic atrophy, and a tendency to develop infections. Arts syndrome is an X-linked disorder caused by a loss-of-function mutation in the PRPS1 gene, which encodes phosphoribosylpyrophosphate synthetase 1. Only three families have been reported. Here, we report another family with Arts syndrome. The initial symptoms of the 1-year-old proband were hypotonia and ataxia, worsening recurrent infection-triggered muscle weakness, motor and intellectual developmental delay, and hearing loss. Both central nervous system involvement and peripheral neuropathy were demonstrated. His three maternal uncles had died before the age of 3years. A genetic analysis of PRPS1 revealed a novel missense mutation, c.367C>G (p.His123Asp). PRPS enzymatic activity was markedly reduced in the patient. His mother was supposed to be an asymptomatic carrier. Arts syndrome should be included in the differential diagnosis of infantile hypotonia and weakness aggravated by recurrent infection with a family history of X-linked inheritance.

Keywords: Ataxia; Hearing impairment; Hypotonia; Recurrent infection; X-linked.

Publication types

  • Case Reports

MeSH terms

  • Ataxia / diagnostic imaging
  • Ataxia / genetics*
  • Ataxia / physiopathology
  • Ataxia / therapy
  • Brain / diagnostic imaging
  • Deaf-Blind Disorders / diagnostic imaging
  • Deaf-Blind Disorders / genetics*
  • Deaf-Blind Disorders / physiopathology
  • Deaf-Blind Disorders / therapy
  • Family
  • Genetic Diseases, X-Linked / diagnostic imaging
  • Genetic Diseases, X-Linked / genetics*
  • Genetic Diseases, X-Linked / physiopathology
  • Genetic Diseases, X-Linked / therapy
  • Humans
  • Infant
  • Male
  • Mutation, Missense*
  • Neural Conduction / genetics
  • Pedigree
  • Ribose-Phosphate Pyrophosphokinase / genetics*


  • PRPS1 protein, human
  • Ribose-Phosphate Pyrophosphokinase

Supplementary concepts

  • Arts syndrome