ArticleOrphanet journal of rare diseases2014
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
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 21 papers.
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Who cites it
21 citing papers in PubMed, 41 citations in OpenAlex.
- Article
- Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians.Pregnancy (Hoboken, N.J.) · 2026Review
- Phosphoribosyl pyrophosphate synthetase 1 (Ophthalmic genetics · 2025Article
- 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
- Inborn Errors of Purine Salvage and Catabolism.Metabolites · 2023Review
- Human PRPS1 filaments stabilize allosteric sites to regulate activity.Nature structural & molecular biology · 2023Article
- Review
- A Novel PRPS1 Mutation in a Japanese Patient with CMTX5.Internal medicine (Tokyo, Japan) · 2022Article
- Hiding in plain sight: genetic deaf-blindness is not always Usher syndrome.Cold Spring Harbor molecular case studies · 2021Article
- Article
- Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations.Investigative ophthalmology & visual science · 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
- New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.Molecular genetics & genomic medicine · 2019Article
- X-Linked Sensorineural Hearing Loss: A Literature Review.Current genomics · 2018Review
- High expression of PRPS1 induces an anti-apoptotic effect in B-ALL cell lines and predicts an adverse prognosis in Chinese children with B-ALL.Oncology letters · 2018Article
- Functional characterization of a novel loss-of-function mutation of PRPS1 related to early-onset progressive nonsyndromic hearing loss in Koreans (DFNX1): Potential implications on future therapeutic intervention.The journal of gene medicine · 2016Article
- Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases.Scientific reports · 2016Article
- Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.Human genomics · 2015Article
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Authors and funding
18 authors at 6 institutions in 3 countries.
Funding
Abstract
backgroundPhosphoribosyl pyrophosphate synthetase (PRS) I deficiency is a rare medical condition caused by missense mutations in PRPS1 that lead to three different phenotypes: Arts Syndrome (MIM 301835), X-linked Charcot-Marie-Tooth (CMTX5, MIM 311070) or X-linked non-syndromic sensorineural deafness (DFN2, MIM 304500). All three are X-linked recessively inherited and males affected display variable degree of central and peripheral neuropathy. We applied whole exome sequencing to a three-generation family with optic atrophy followed by retinitis pigmentosa (RP) in all three cases, and ataxia, progressive peripheral neuropathy and hearing loss with variable presentation.
methodsWhole exome sequencing was performed in two affecteds and one unaffected member of the family. Sanger sequencing was used to validate and segregate the 12 candidate mutations in the family and to confirm the absence of the novel variant in PRPS1 in 191 controls. The pathogenic role of the novel mutation in PRPS1 was assessed in silico and confirmed by enzymatic determination of PRS activity, mRNA expression and sequencing, and X-chromosome inactivation.
resultsA novel missense mutation was identified in PRPS1 in the affected females. Age of onset, presentation and severity of the phenotype are highly variable in the family: both the proband and her mother have neurological and ophthalmological symptoms, whereas the phenotype of the affected sister is milder and currently confined to the eye. Moreover, only the proband displayed a complete lack of expression of the wild type allele in leukocytes that seems to correlate with the degree of PRS deficiency and the severity of the phenotype. Interestingly, optic atrophy and RP are the only common manifestations to all three females and the only phenotype correlating with the degree of enzyme deficiency.
conclusionsThese results are in line with recent evidence of the existence of intermediate phenotypes in PRS-I deficiency syndromes and demonstrate that females can exhibit a disease phenotype as severe and complex as their male counterparts.
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