ArticleMolecular genetics & genomic medicine2019
New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Age-Dependent Progression of Neurological Involvement in PRPP Deficiency: Insights from a Four-Generation Family and Systematic Review.Biomolecules · 2026Pooled it
- Article
- Phosphoribosyl pyrophosphate synthetase 1 (Ophthalmic genetics · 2025Article
- Heterogeneous Group of Genetically Determined Auditory Neuropathy Spectrum Disorders.International journal of molecular sciences · 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
- Review
- Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in theMolecular genetics and metabolism reports · 2020Article
- New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.Molecular genetics & genomic medicine · 2019Article
- Genetic Spectrum of Inherited Neuropathies in India.Annals of Indian Academy of NeurologyArticle
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9 authors.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundCMTX5 is characterized by peripheral neuropathy, early-onset sensorineural hearing impairment, and optic neuropathy. Only seven variants have been reported and no genotype-phenotype correlations have yet been established. PRPS1 has a crystallographic structure, as it is composed of three dimers that constitute a hexamer.
methodsNext-generation sequencing (NGS) was performed using a custom 92-gene panel designed for the diagnosis of Charcot-Marie-Tooth (CMT) and associated neuropathies.
resultsWe report the case of a 35-year-old male, who had presented CMT and hearing loss since childhood associated to bilateral optic neuropathy without any sign of retinitis pigmentosa. A new hemizygous variant on chromosomic position X:106,882,604, in the PRPS1 gene, c.202A > T, p.(Met68Leu) was found. This change is predicted to lead to an altered affinity between the different subunits in the dimer, thereby may prevent the hexamer formation.
conclusionCMTX5 is probably under-diagnosed, as an overlap among the different features due to PRPS1 exists. Patients who developed polyneuropathy associated to sensorineural deafness and optic atrophy during childhood should be assessed for PRPS1.
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