{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T00:33:05Z","timestamp":1778632385651,"version":"3.51.4"},"reference-count":29,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2019,8,8]],"date-time":"2019-08-08T00:00:00Z","timestamp":1565222400000},"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 &amp; Gen Med"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The most common inherited peripheral neuropathy is Charcot\u2010Marie\u2010Tooth disease (CMT), with a prevalence of 1\/2500. Other symptoms can be associated to the condition, such as hearing loss. Currently, no global hearing impairment assessment has been determined, and the physiopathology is not well known.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The aim of the study was to analyze among a French series of 3,412 patients with inherited peripheral neuropathy (IPN), the ones who also suffer from hearing loss, to establish phenotype\u2010genotype correlations. An NGS strategy for IPN one side and nonsyndromic hearing loss (NSHL) on the other side, were performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Hearing loss (HL) was present in only 44 patients (1.30%). The clinical data of 27 patients were usable. Demyelinating neuropathy was diagnosed in 15 cases and axonal neuropathy in 12 cases. HL varied from mild to profound. Five cases of auditory neuropathy were noticed. Diagnosis was made for 60% of these patients. Seven novel pathogenic variants were discovered in five different genes: <jats:italic>PRPS1; MPZ<\/jats:italic>; <jats:italic>SH3TC2<\/jats:italic>; <jats:italic>NEFL;<\/jats:italic> and <jats:italic>ABHD12<\/jats:italic>. Two patients with <jats:italic>PMP22<\/jats:italic> variant, had also an additional variant in <jats:italic>COCH<\/jats:italic> and <jats:italic>MYH14<\/jats:italic> respectively. No pathogenic variant was found at the DFNB1 locus. Genotype\u2010phenotype correlations do exist, especially with <jats:italic>SH3TC2, PRPS1, ABHD12, NEFL, a<\/jats:italic>nd <jats:italic>TRPV4.<\/jats:italic><\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Involvement of <jats:italic>PMP22<\/jats:italic> is not enough to explain hearing loss in patients suffering from IPN. HL can be due to cochlear impairment and\/or auditory nerve dysfunction. HL is certainly underdiagnosed, and should be evaluated in every patient suffering from IPN.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.839","type":"journal-article","created":{"date-parts":[[2019,8,8]],"date-time":"2019-08-08T10:09:13Z","timestamp":1565258953000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series"],"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":"University of Limoges, MMNP Limoges France"},{"name":"Service Oto\u2010Rhino\u2010Laryngologie et Chirurgie Cervico\u2010Faciale CHU Limoges Limoges France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Corinne","family":"Magdelaine","sequence":"additional","affiliation":[{"name":"University of Limoges, MMNP Limoges France"},{"name":"Service Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire CHU Limoges Limoges France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne\u2010Fran\u00e7oise","family":"Roux","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire CHU Montpellier Montpellier France"},{"name":"University of Montpellier Montpellier France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L\u00e9a","family":"Darnaud","sequence":"additional","affiliation":[{"name":"Service Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire CHU Limoges Limoges France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u00e9l\u00e8ne","family":"Beauvais\u2010Dzugan","sequence":"additional","affiliation":[{"name":"University of Limoges, MMNP Limoges France"},{"name":"Service Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire CHU Limoges Limoges France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven","family":"Naud","sequence":"additional","affiliation":[{"name":"Service Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire CHU Limoges Limoges France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurence","family":"Richard","sequence":"additional","affiliation":[{"name":"CRMR Neuropathies P\u00e9riph\u00e9riques Rares, CHU Limoges Limoges France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paco","family":"Derouault","sequence":"additional","affiliation":[{"name":"Service Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire CHU Limoges Limoges France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karima","family":"Ghorab","sequence":"additional","affiliation":[{"name":"University of Limoges, MMNP Limoges France"},{"name":"CRMR Neuropathies P\u00e9riph\u00e9riques Rares, CHU Limoges Limoges France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurent","family":"Magy","sequence":"additional","affiliation":[{"name":"University of Limoges, MMNP Limoges France"},{"name":"CRMR Neuropathies P\u00e9riph\u00e9riques Rares, CHU Limoges Limoges France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Michel","family":"Vallat","sequence":"additional","affiliation":[{"name":"CRMR Neuropathies P\u00e9riph\u00e9riques Rares, CHU Limoges Limoges France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pascal","family":"Cintas","sequence":"additional","affiliation":[{"name":"Service de Neurologie et d'explorations fonctionnelles CHU Toulouse Toulouse France"},{"name":"Service de Neurologie, Centre de r\u00e9f\u00e9rence de pathologie neuromusculaire CHU Toulouse Toulouse France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Bieth","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU Toulouse Toulouse France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie\u2010Christine","family":"Arne\u2010Bes","sequence":"additional","affiliation":[{"name":"Service de Neurologie et d'explorations fonctionnelles CHU Toulouse Toulouse France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cyril","family":"Goizet","sequence":"additional","affiliation":[{"name":"Service de Neurog\u00e9n\u00e9tique CHU Bordeaux Bordeaux France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caroline","family":"Espil\u2010Taris","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique m\u00e9dicale CHU Bordeaux Bordeaux France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hubert","family":"Journel","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CH Bretagne Atlantique Vannes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annick","family":"Toutain","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique CHU Tours Tours France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jon Andoni","family":"Urtizberea","sequence":"additional","affiliation":[{"name":"Centre de r\u00e9f\u00e9rence Neuromusculaire H\u00f4pital marin Hendaye France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Odile","family":"Boespflug\u2010Tanguy","sequence":"additional","affiliation":[{"name":"Service de Neurog\u00e9n\u00e9tique H\u00f4pital Robert\u2010Debr\u00e9 AP\u2010HP Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fanny","family":"Laffargue","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique m\u00e9dicale CHU Clermont\u2010Ferrand Clermont\u2010Ferrand France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippe","family":"Corcia","sequence":"additional","affiliation":[{"name":"Service de Neurologie CHU Tours Tours France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurent","family":"Pasquier","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique m\u00e9dicale CHU Rennes Rennes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00e9lanie","family":"Fradin","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique m\u00e9dicale CHU Rennes Rennes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylva","family":"Napuri","sequence":"additional","affiliation":[{"name":"Service de P\u00e9diatrie CHU Rennes Rennes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan","family":"Ciron","sequence":"additional","affiliation":[{"name":"Service de Neurologie CHU Poitiers Poitiers France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Marc","family":"Boulesteix","sequence":"additional","affiliation":[{"name":"Service Neurologie CHU Cahors Cahors France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franck","family":"Sturtz","sequence":"additional","affiliation":[{"name":"University of Limoges, MMNP Limoges France"},{"name":"Service Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire CHU Limoges Limoges France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne\u2010Sophie","family":"Lia","sequence":"additional","affiliation":[{"name":"University of Limoges, MMNP Limoges France"},{"name":"Service Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire CHU Limoges Limoges France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,8,8]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2008.13"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1155\/2018\/1760978"},{"key":"e_1_2_8_4_1","volume-title":"GeneReviews\u00ae","author":"Azzedine H.","year":"2008"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22701"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-16846-9"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.6.1073"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21488"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00774.x"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410350515"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl284"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1179\/1754762811Y.0000000021"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2016-315077"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10223"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31825f04b2"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23120"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0188578"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-012-1277-5"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.7.1047"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103272"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200769"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2018.08.006"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1177\/000348940711600506"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/jns.12175"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0022215106000727"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182a9f56a"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0692-171"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mao.0000169769.93173.df"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1529-8027.2012.00382.x"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1341"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmgg3.839","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.839","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.839","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.839","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T00:33:02Z","timestamp":1694219582000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.839"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8,8]]},"references-count":29,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2019,9]]}},"alternative-id":["10.1002\/mgg3.839"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.839","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,8,8]]},"assertion":[{"value":"2019-01-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-05-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-08-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e839"}}