ArticleAmerican journal of human genetics2007
Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).
Article in American journal of human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 1 of them a synthesis that pooled it.
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Who cites it
53 citing papers in PubMed, 1 synthesis or guideline pooled it, 153 citations in OpenAlex.
- Age-Dependent Progression of Neurological Involvement in PRPP Deficiency: Insights from a Four-Generation Family and Systematic Review.Biomolecules · 2026Pooled it
- Dynamic control of nucleotide metabolism in physiology and disease.Nature cell biology · 2026Review
- Article
- PRPS activity tunes redox homeostasis in Myc-driven lymphoma.Redox biology · 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
- Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review.Molecular genetics and metabolism reports · 2023Article
- Inborn Errors of Purine Salvage and Catabolism.Metabolites · 2023Review
- Structural basis of human PRPS2 filaments.Cell & bioscience · 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
- A Novel PRPS1 Mutation in a Japanese Patient with CMTX5.Internal medicine (Tokyo, Japan) · 2022Article
- Characterizing microRNA editing and mutation sites in Autism Spectrum Disorder.Frontiers in molecular neuroscience · 2022Article
- Article
- Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in theMolecular genetics and metabolism reports · 2020Article
- PRPS polymerization influences lens fiber organization in zebrafish.Developmental dynamics : an official publication of the American Association of Anatomists · 2020Article
- Review
- A novel mutation in gene of PRPS1 in a young Chinese woman with X-linked gout: a case report and review of the literature.Clinical rheumatology · 2020Review
- Evidence for gene-smoking interactions for hearing loss and deafness in Japanese American families.Hearing research · 2020Article
- New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
16 authors at 7 institutions in 2 countries.
Funding
Abstract
We have identified missense mutations at conserved amino acids in the PRPS1 gene on Xq22.3 in two families with a syndromic form of inherited peripheral neuropathy, one of Asian and one of European descent. The disease is inherited in an X-linked recessive manner, and the affected male patients invariably develop sensorineural hearing loss of prelingual type followed by gating disturbance and visual loss. The family of European descent was reported in 1967 as having Rosenberg-Chutorian syndrome, and recently a Korean family with the same symptom triad was identified with a novel disease locus CMTX5 on the chromosome band Xq21.32-q24. PRPS1 (phosphoribosyl pyrophosphate synthetase 1) is an isoform of the PRPS gene family and is ubiquitously expressed in human tissues, including cochlea. The enzyme mediates the biochemical step critical for purine metabolism and nucleotide biosynthesis. The mutations identified were E43D, in patients with Rosenberg-Chutorian syndrome, and M115T, in the Korean patients with CMTX5. We also showed decreased enzyme activity in patients with M115T. PRPS1 is the first CMT gene that encodes a metabolic enzyme, shedding a new light on the understanding of peripheral nerve-specific metabolism and also suggesting the potential of PRPS1 as a target for drugs in prevention and treatment of peripheral neuropathy by antimetabolite therapy.
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