ArticleAmerican journal of human genetics2010
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.
Article in American journal of human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 2 of them syntheses that pooled it.
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Who cites it
56 citing papers in PubMed, 2 syntheses or guidelines pooled it, 123 citations in OpenAlex.
- Age-Dependent Progression of Neurological Involvement in PRPP Deficiency: Insights from a Four-Generation Family and Systematic Review.Biomolecules · 2026Pooled it
- Prevalence of various etiologies of hearing loss among cochlear implant recipients: Systematic review and meta-analysis.International journal of audiology · 2015Pooled it
- Identification and Functional Characterization of a Novel POU3F4 Frameshift Mutation in a Chinese Family.Life (Basel, Switzerland) · 2026Article
- Generation and Auditory Phenotypic Characterization of Prps1 p.Ala87Thr Mouse Knock-In Model for Human DFNX1 Deafness.Clinical genetics · 2025Article
- PRPS activity tunes redox homeostasis in Myc-driven lymphoma.Redox biology · 2025Article
- PRPS2 enhances RNA mNature communications · 2025Article
- Identification and Functional Characterization of a Novel PRPS1 Variant in X-Linked Nonsyndromic Hearing Loss: Insights From Zebrafish and Cellular Models.Human mutation · 2025Article
- Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.Orphanet journal of rare diseases · 2024Article
- Article
- Clinical and Molecular Aspects Associated with Defects in the Transcription Factor POU3F4: A Review.Biomedicines · 2023Review
- Structural basis of human PRPS2 filaments.Cell & bioscience · 2023Article
- Human PRPS1 filaments stabilize allosteric sites to regulate activity.Nature structural & molecular biology · 2023Article
- Recent advances in genetic etiology of non-syndromic deafness in children.Frontiers in neuroscience · 2023Review
- Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models.Biomedicines · 2022Article
- Susceptibility genes of hyperuricemia and gout.Hereditas · 2022Review
- A novel mutation of X-linked recessive deafness geneLaryngoscope investigative otolaryngology · 2022Article
- Single-cell RNA-sequencing analysis of the developing mouse inner ear identifies molecular logic of auditory neuron diversification.Nature communications · 2022Article
- Review
- Characterizing microRNA editing and mutation sites in Autism Spectrum Disorder.Frontiers in molecular neuroscience · 2022Article
- Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in theMolecular genetics and metabolism reports · 2020Article
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Authors and funding
22 authors at 8 institutions in 3 countries.
Funding
Abstract
We report a large Chinese family with X-linked postlingual nonsyndromic hearing impairment in which the critical linkage interval spans a genetic distance of 5.41 cM and a physical distance of 15.1 Mb that overlaps the DFN2 locus. Mutation screening of the PRPS1 gene in this family and in the three previously reported DFN2 families identified four different missense mutations in PRPS1. These mutations result in a loss of phosphoribosyl pyrophosphate (PRPP) synthetase 1 activity, as was shown in silico by structural analysis and was shown in vitro by enzymatic activity assays in erythrocytes and fibroblasts from patients. By in situ hybridization, we demonstrate expression of Prps1 in murine vestibular and cochlea hair cells, with continuous expression in hair cells and postnatal expression in the spiral ganglion. Being the second identified gene associated with X-linked nonsyndromic deafness, PRPS1 will be a good candidate gene for genetic testing for X-linked nonsyndromic hearing loss.
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