ArticleOrphanet journal of rare diseases2014
X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.
Article in Orphanet journal of rare diseases, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 1 of them a synthesis that pooled it.
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36 citing papers in PubMed, 1 synthesis or guideline pooled it, 63 citations in OpenAlex.
- Age-Dependent Progression of Neurological Involvement in PRPP Deficiency: Insights from a Four-Generation Family and Systematic Review.Biomolecules · 2026Pooled it
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- Phosphoribosyl pyrophosphate synthetase 1 (Ophthalmic genetics · 2025Article
- An X-Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.Orphanet journal of rare diseases · 2024Article
- IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency.EMBO reports · 2024Article
- Hypothesis: evidence that the PRS gene products of Saccharomyces cerevisiae support both PRPP synthesis and maintenance of cell wall integrity.Current genetics · 2024Article
- Integrated Functions of Cardiac Energetics, Mechanics, and Purine Nucleotide Metabolism.Comprehensive Physiology · 2023Article
- S-adenosylmethionine and nicotinamide riboside therapy in Arts syndrome: A case report and literature review.JIMD reports · 2023Article
- Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review.Molecular genetics and metabolism reports · 2023Article
- Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models.Biomedicines · 2022Article
- Review
- Towards Understanding PRPS1 as a Molecular Player in Immune Response in Yellow Drum (International journal of molecular sciences · 2022Article
- A Novel PRPS1 Mutation in a Japanese Patient with CMTX5.Internal medicine (Tokyo, Japan) · 2022Article
- The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders.Brain sciences · 2021Review
- Article
- Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency).Molecular genetics and metabolism reports · 2021Article
- Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in theMolecular genetics and metabolism reports · 2020Article
- Review
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Authors and funding
10 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundX-linked Charcot-Marie-Tooth disease type 5 (CMTX5), Arts syndrome, and non-syndromic sensorineural deafness (DFN2) are allelic syndromes, caused by reduced activity of phosphoribosylpyrophosphate synthetase 1 (PRS-I) due to loss-of-function mutations in PRPS1. As only few families have been described, knowledge about the relation between these syndromes, the phenotypic spectrum in patients and female carriers, and the relation to underlying PRS-I activity is limited.
methodsWe investigated a family with a novel PRPS1 mutation (c.830A > C, p.Gln277Pro) by extensive phenotyping, MRI, and genetic and enzymatic tests.
resultsThe male index subject presented with an overlap of CMTX5 and Arts syndrome features, whereas his sister presented with prelingual DFN2. Both showed mild parietal and cerebellar atrophy on MRI. Enzymatically, PRS-I activity was undetectable in the index subject, reduced in his less affected sister, and normal in his unaffected mother.
conclusionsOur findings demonstrate that CMTX5, Arts syndrome and DFN2 are phenotypic clusters on an intrafamilial continuum, including overlapping phenotypes even within individuals. The respective phenotypic presentation seems to be determined by the exact PRPS1 mutation and the residual enzyme activity, the latter being largely influenced by the degree of skewed X-inactivation. Finally, our findings show that brain atrophy might be more common in PRPS1-disorders than previously thought.
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