| http://purl.uniprot.org/citations/31338985 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/31338985 | http://www.w3.org/2000/01/rdf-schema#comment | "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."xsd:string |
| http://purl.uniprot.org/citations/31338985 | http://purl.org/dc/terms/identifier | "doi:10.1002/mgg3.875"xsd:string |
| http://purl.uniprot.org/citations/31338985 | http://purl.uniprot.org/core/author | "Bieth E."xsd:string |
| http://purl.uniprot.org/citations/31338985 | http://purl.uniprot.org/core/author | "Magdelaine C."xsd:string |
| http://purl.uniprot.org/citations/31338985 | http://purl.uniprot.org/core/author | "Sturtz F."xsd:string |
| http://purl.uniprot.org/citations/31338985 | http://purl.uniprot.org/core/author | "Arne-Bes M.C."xsd:string |
| http://purl.uniprot.org/citations/31338985 | http://purl.uniprot.org/core/author | "Lerat J."xsd:string |
| http://purl.uniprot.org/citations/31338985 | http://purl.uniprot.org/core/author | "Beauvais-Dzugan H."xsd:string |
| http://purl.uniprot.org/citations/31338985 | http://purl.uniprot.org/core/author | "Lia A.S."xsd:string |
| http://purl.uniprot.org/citations/31338985 | http://purl.uniprot.org/core/author | "Acket B."xsd:string |
| http://purl.uniprot.org/citations/31338985 | http://purl.uniprot.org/core/author | "Derouault P."xsd:string |
| http://purl.uniprot.org/citations/31338985 | http://purl.uniprot.org/core/date | "2019"xsd:gYear |
| http://purl.uniprot.org/citations/31338985 | http://purl.uniprot.org/core/name | "Mol Genet Genomic Med"xsd:string |
| http://purl.uniprot.org/citations/31338985 | http://purl.uniprot.org/core/pages | "e875"xsd:string |
| http://purl.uniprot.org/citations/31338985 | http://purl.uniprot.org/core/title | "New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient."xsd:string |
| http://purl.uniprot.org/citations/31338985 | http://purl.uniprot.org/core/volume | "7"xsd:string |
| http://purl.uniprot.org/citations/31338985 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/31338985 |
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