{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,8]],"date-time":"2026-04-08T09:02:21Z","timestamp":1775638941966,"version":"3.50.1"},"reference-count":43,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,11,18]],"date-time":"2025-11-18T00:00:00Z","timestamp":1763424000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,11,18]],"date-time":"2025-11-18T00:00:00Z","timestamp":1763424000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001321","name":"National Research Foundation","doi-asserted-by":"publisher","award":["2019R1A2C1087547"],"award-info":[{"award-number":["2019R1A2C1087547"]}],"id":[{"id":"10.13039\/501100001321","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001321","name":"National Research Foundation","doi-asserted-by":"publisher","award":["RS2022\u2010NR075602"],"award-info":[{"award-number":["RS2022\u2010NR075602"]}],"id":[{"id":"10.13039\/501100001321","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008903","name":"Ministry of Health and Welfare","doi-asserted-by":"publisher","award":["HR22C1363"],"award-info":[{"award-number":["HR22C1363"]}],"id":[{"id":"10.13039\/100008903","id-type":"DOI","asserted-by":"publisher"}]}],"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>De novo mutations provide a fundamental source of gene pool changes, driving genomic microevolution. Charcot\u2013Marie\u2013Tooth disease (CMT), which is a group of genetically and clinically heterogeneous peripheral neuropathic disorders, is characterized by progressive muscle weakness, hand and foot deformities, and occasional involvement of other organs. This study conducted the first cohort study of de novo mutations in CMT patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>De novo mutations were examined in 151 genetically diagnosed father\u2013mother\u2013child trio autosomal dominant CMT families except for CMT1A.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We identified 49 de novo point or small indel mutations in 61 patients. The frequency of de novo mutations was 40.4%, with gene\u2010specific rates in their distribution. Haplotype analysis revealed predominant paternal origin, consistent with previous reports for CMT1A. Frequent substitutions at highly methylated CpG sites suggested that CpG methylation strongly contributes to the induction of de novo mutations. In particular, this study observed an anticipation of earlier onset in the affected children compared to their parents (founders) with de novo mutations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>This study reports de novo mutations that occur frequently in CMT families. Characterization of de novo pathogenic mutations is expected to provide valuable insights not only into the genetic diagnosis and treatment of rare genetic diseases, but also into the evolutionary genomic study of deleterious alleles.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jns.70081","type":"journal-article","created":{"date-parts":[[2025,11,18]],"date-time":"2025-11-18T23:05:16Z","timestamp":1763507116000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Frequent De Novo Mutations in Korean Patients With Charcot\u2013Marie\u2013Tooth Disease"],"prefix":"10.1111","volume":"30","author":[{"given":"Ah Jin","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Biological Sciences Kongju National University  Chungnam Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soo Hyun","family":"Nam","sequence":"additional","affiliation":[{"name":"Cell &amp; Gene Therapy Institute Samsung Medical Center  Seoul Korea"},{"name":"Department of Neurology, Samsung Medical Center Sungkyunkwan University School of Medicine  Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sinyeong","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences Kongju National University  Chungnam Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Su Min","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences Kongju National University  Chungnam Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyung Suk","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Physics Education Kongju National University  Chungnam Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Byung\u2010Ok","family":"Choi","sequence":"additional","affiliation":[{"name":"Cell &amp; Gene Therapy Institute Samsung Medical Center  Seoul Korea"},{"name":"Department of Neurology, Samsung Medical Center Sungkyunkwan University School of Medicine  Seoul Korea"},{"name":"Department of Health Sciences and Technology, SAIHST Sungkyunkwan University  Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0363-8432","authenticated-orcid":false,"given":"Ki Wha","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences Kongju National University  Chungnam Korea"},{"name":"Center for Biotechnology Kongju National University  Chungnam Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,11,18]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11396"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3597"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature24018"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3469"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrrev.2015.12.002"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2832-5"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2023.1188361"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-323-98818-6.00009-1"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1380"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.1.141"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12432"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.3892\/mmr.2014.3047"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aww082"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes13071219"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13258-018-0721-1"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1678"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.3988\/jcn.2021.17.1.52"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1870"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.3390\/life11060494"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13258-025-01643-w"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes13030462"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/jns.12223"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/jns.12476"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/jns.12530"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.3892\/mmr.2013.1808"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.14348\/molcells.2016.2288"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000327095.32005.a4"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl126"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20797"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1193-269"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-015-7709-4"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1109122"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-210652"},{"key":"e_1_2_9_35_1","first-page":"638","article-title":"High Frequency of Mutations in Codon 98 of the Peripheral Myelin Protein P0 Gene in 20 French CMT1 Patients","volume":"58","author":"Rouger H.","year":"1996","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002659"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0510310103"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.06.013"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000436615.58705.c9"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.71513"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.02.022"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-008-0693-1"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.ge.29.120195.003415"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-63233-3.00009-9"}],"container-title":["Journal of the Peripheral Nervous System"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jns.70081","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/jns.70081","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jns.70081","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,8]],"date-time":"2026-04-08T08:20:01Z","timestamp":1775636401000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jns.70081"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,18]]},"references-count":43,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,12]]}},"alternative-id":["10.1111\/jns.70081"],"URL":"https:\/\/doi.org\/10.1111\/jns.70081","archive":["Portico"],"relation":{},"ISSN":["1085-9489","1529-8027"],"issn-type":[{"value":"1085-9489","type":"print"},{"value":"1529-8027","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11,18]]},"assertion":[{"value":"2025-10-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-11-05","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-11-18","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70081"}}