{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:50:13Z","timestamp":1786978213941,"version":"build-2736575974"},"reference-count":12,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2019,7,23]],"date-time":"2019-07-23T00:00:00Z","timestamp":1563840000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen & Gen Med"],"published-print":{"date-parts":[[2019,9]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n CMTX5 is characterized by peripheral neuropathy, early\u2010onset sensorineural hearing impairment, and optic neuropathy. Only seven variants have been reported and no genotype\u2010phenotype correlations have yet been established. PRPS1 has a crystallographic structure, as it is composed of three dimers that constitute a hexamer.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n Next\u2010generation sequencing (NGS) was performed using a custom 92\u2010gene panel designed for the diagnosis of Charcot\u2010Marie\u2010Tooth (CMT) and associated neuropathies.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n We report the case of a 35\u2010year\u2010old 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\n PRPS1<\/jats:italic>\n gene, c.202A\u00a0>\u00a0T, 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.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n CMTX5 is probably under\u2010diagnosed, as an overlap among the different features due to\n PRPS1<\/jats:italic>\n exists. Patients who developed polyneuropathy associated to sensorineural deafness and optic atrophy during childhood should be assessed for\n PRPS1.<\/jats:italic>\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/mgg3.875","type":"journal-article","created":{"date-parts":[[2019,7,24]],"date-time":"2019-07-24T00:49:14Z","timestamp":1563929354000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6228-7591","authenticated-orcid":false,"given":"Justine","family":"Lerat","sequence":"first","affiliation":[{"name":"Univ. Limoges, MMNP Limoges France"},{"name":"CHU Limoges, Service Oto\u2010Rhino\u2010Laryngologie et Chirurgie Cervico\u2010Faciale Limoges France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Magdelaine","sequence":"additional","affiliation":[{"name":"Univ. Limoges, MMNP Limoges France"},{"name":"CHU Limoges, Service Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire Limoges France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paco","family":"Derouault","sequence":"additional","affiliation":[{"name":"CHU Limoges, Service Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire Limoges France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Beauvais\u2010Dzugan","sequence":"additional","affiliation":[{"name":"Univ. Limoges, MMNP Limoges France"},{"name":"CHU Limoges, Service Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire Limoges France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Bieth","sequence":"additional","affiliation":[{"name":"CHU Toulouse, Service G\u00e9n\u00e9tique M\u00e9dicale Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Blandine","family":"Acket","sequence":"additional","affiliation":[{"name":"CHU Toulouse, Explorations neurophysiologiques, Centre SLA, Centre de r\u00e9f\u00e9rence de pathologie neuromusculaire Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Christine","family":"Arne\u2010Bes","sequence":"additional","affiliation":[{"name":"CHU Toulouse, Explorations neurophysiologiques, Centre SLA, Centre de r\u00e9f\u00e9rence de pathologie neuromusculaire Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franck","family":"Sturtz","sequence":"additional","affiliation":[{"name":"Univ. 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Limoges, MMNP Limoges France"},{"name":"CHU Limoges, Service Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire Limoges France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,7,23]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11011-017-0121-2"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0190-9"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(90)90043-T"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.02.024"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23349"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/519529"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20061066"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1155\/2015\/127013"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2018.08.006"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.3988\/jcn.2013.9.4.283"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.168"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-24"}],"container-title":["Molecular Genetics & Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.875","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.875","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.875","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,8]],"date-time":"2023-09-08T20:32:10Z","timestamp":1694205130000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.875"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7,23]]},"references-count":12,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2019,9]]}},"alternative-id":["10.1002\/mgg3.875"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.875","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,7,23]]},"assertion":[{"value":"2019-02-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-07-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-07-23","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e875"}}