{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,8]],"date-time":"2026-04-08T09:02:14Z","timestamp":1775638934504,"version":"3.50.1"},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,12,9]],"date-time":"2025-12-09T00:00:00Z","timestamp":1765238400000},"content-version":"vor","delay-in-days":8,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background and Aims<\/jats:title>\n                    <jats:p>\n                      Variants in the myelin protein zero coding\n                      <jats:italic>MPZ<\/jats:italic>\n                      gene are responsible for a broad spectrum of peripheral demyelinating and axonal neuropathies, including different types of Charcot\u2013Marie\u2013Tooth diseases, challenging for genotype\u2013phenotype correlation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Minigene splicing reporter assay was used to unveil the pathogenic mechanism of a novel\n                      <jats:italic>MPZ<\/jats:italic>\n                      (NM_000530.8) c.234\u2009+\u20091G&gt;C p.(?) heterozygous splice variant.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The variant was identified in a 47\u2010year\u2010old female patient presenting with atypical clinical features, including balance disturbance with positive Romberg, absent Achilles tendon reflexes, distal hypoesthesia and bulbar involvement, including dysarthria and dysphagia. Electromyography revealed a sensory\u2010motor neuropathy with moderately reduced nerve conduction velocities. In silico analysis predicted this variant to disrupt the consensual donor splice site located in intron 2 of\n                      <jats:italic>MPZ<\/jats:italic>\n                      . Minigene construction confirmed the functional impact of this variant, revealing exon 2 skipping and the apparition of a premature termination codon.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>\n                      This case expends the genotype\u2013phenotype correlations of\n                      <jats:italic>MPZ<\/jats:italic>\n                      \u2010related Charcot\u2013Marie\u2013Tooth diseases, associating atypical mild phenotype with a rare splice dominant variant, and provides new insights into\n                      <jats:italic>MPZ<\/jats:italic>\n                      haploinsufficiency and pathogenic mechanisms.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jns.70085","type":"journal-article","created":{"date-parts":[[2025,12,9]],"date-time":"2025-12-09T10:49:21Z","timestamp":1765277361000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel Dominant Splicing Variant in\n                    <i>MPZ<\/i>\n                    Associated With Unusual Charcot\u2013Marie\u2013Tooth Disease"],"prefix":"10.1111","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-1012-8292","authenticated-orcid":false,"given":"Anthony","family":"Maino","sequence":"first","affiliation":[{"name":"CHU Grenoble Alpes, Laboratoire de Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire  Grenoble France"},{"name":"Universit\u00e9 Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences  Grenoble France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florence","family":"Hazane\u2010Puch","sequence":"additional","affiliation":[{"name":"CHU Grenoble Alpes, Laboratoire de Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire  Grenoble France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippe","family":"Petiot","sequence":"additional","affiliation":[{"name":"Service d'Electroneuromyographie et de Pathologies Neuromusculaires, H\u00f4pital Neurologique Pierre Wertheimer  Lyon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathalie","family":"Roux\u2010Buisson","sequence":"additional","affiliation":[{"name":"CHU Grenoble Alpes, Laboratoire de Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire  Grenoble France"},{"name":"Universit\u00e9 Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences  Grenoble France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Rendu","sequence":"additional","affiliation":[{"name":"CHU Grenoble Alpes, Laboratoire de Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire  Grenoble France"},{"name":"Universit\u00e9 Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences  Grenoble France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julien","family":"Faur\u00e9","sequence":"additional","affiliation":[{"name":"CHU Grenoble Alpes, Laboratoire de Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire  Grenoble France"},{"name":"Universit\u00e9 Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences  Grenoble France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ga\u00eblle","family":"Hardy","sequence":"additional","affiliation":[{"name":"CHU Grenoble Alpes, Laboratoire de Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire  Grenoble France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,12,9]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)80049-5"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/344871a0"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)80177-4"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2005.11.015"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11011-023-01201-x"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s42003-020-0854-z"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/jns.12452"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv241"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2016.05.011"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.3819-05.2006"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1195-281"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.148.5.1021"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.66.6.779"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2023.12.024"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13881"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms24129786"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2108"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51233"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aaa4484"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddy420"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab249"}],"container-title":["Journal of the Peripheral Nervous System"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jns.70085","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/jns.70085","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jns.70085","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,8]],"date-time":"2026-04-08T08:19:41Z","timestamp":1775636381000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jns.70085"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12]]},"references-count":21,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,12]]}},"alternative-id":["10.1111\/jns.70085"],"URL":"https:\/\/doi.org\/10.1111\/jns.70085","archive":["Portico"],"relation":{},"ISSN":["1085-9489","1529-8027"],"issn-type":[{"value":"1085-9489","type":"print"},{"value":"1529-8027","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12]]},"assertion":[{"value":"2025-08-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-11-25","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-12-09","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70085"}}