{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T02:16:56Z","timestamp":1782785816439,"version":"3.54.5"},"reference-count":38,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>In many developing regions, genetic data on Charcot\u2013Marie\u2013Tooth disease (CMT) remains scarce.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>This study aimed to investigate the genetic landscape of CMT in Vietnam to guide the development of cost-effective diagnostic algorithms for patients with suspected genetic neuropathies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>\n                      We recruited 44 patients with a diagnosis of CMT from three tertiary centers between March 2021 and December 2023 and recorded their clinical and electrophysiological characteristics. All patients were analyzed for duplications or deletions of\n                      <jats:italic toggle=\"yes\">PMP22<\/jats:italic>\n                      ,\n                      <jats:italic toggle=\"yes\">GJB1<\/jats:italic>\n                      ,\n                      <jats:italic toggle=\"yes\">MPZ<\/jats:italic>\n                      , and\n                      <jats:italic toggle=\"yes\">MFN2<\/jats:italic>\n                      via multiplex ligation-dependent probe amplification (MLPA) and for 94 genes via targeted next-generation sequencing (NGS). The identified variants were classified per the American College of Medical Genetics and Genomics 2015 guidelines using VarSome, a bioinformatics engine.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      Among 44 patients, 24 carried a total of 26 variants. Of these 26 variants, 15 were (57.7%) pathogenic, 6 (23.1%) were likely pathogenic, and 5 (19.2%) were variants of uncertain significance (VUS). Excluding the VUS, the diagnostic yield of the targeted sequencing was 43.2% (19\/44). Through MLPA,\n                      <jats:italic toggle=\"yes\">PMP22<\/jats:italic>\n                      duplications were identified in 10 patients with the demyelinating type of CMT and 1 patient with the unclassified CMT type. The combined yield of MLPA and gene panels was 68.2% (30\/44). We detected three novel pathogenic\/likely pathogenic variants in\n                      <jats:italic toggle=\"yes\">GJB1<\/jats:italic>\n                      ,\n                      <jats:italic toggle=\"yes\">INF2<\/jats:italic>\n                      , and\n                      <jats:italic toggle=\"yes\">IGHMBP2<\/jats:italic>\n                      , as well as three novel VUS in\n                      <jats:italic toggle=\"yes\">MPZ<\/jats:italic>\n                      ,\n                      <jats:italic toggle=\"yes\">PMP22<\/jats:italic>\n                      , and\n                      <jats:italic toggle=\"yes\">INF2<\/jats:italic>\n                      .\n                      <jats:italic toggle=\"yes\">IGHMBP2<\/jats:italic>\n                      may represent the most prevalent autosomal recessive gene associated with CMT in Vietnam.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>We propose a sequential genetic testing approach for CMT in resource-limited settings, with the initial testing via MLPA for demyelinating CMT, followed by NGS for those who test negative. Our findings broaden the CMT genotype\u2013phenotype profile of the Vietnamese population by identifying six novel candidate variants.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/22143602251313722","type":"journal-article","created":{"date-parts":[[2025,1,29]],"date-time":"2025-01-29T13:56:01Z","timestamp":1738158961000},"page":"23-44","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Genetic landscape of Charcot\u2013Marie\u2013Tooth disease in Vietnam: A prospective multicenter study"],"prefix":"10.1177","volume":"12","author":[{"given":"Hoang Tien Trong","family":"Nghia","sequence":"first","affiliation":[{"name":"Department of Neurology, Military Hospital 175, Ho Chi Minh City, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thirugnanam","family":"Umapathi","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Neuroscience Institute, Singapore, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nguyen Minh","family":"Duc","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nguyen Le Trung","family":"Hieu","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam"},{"name":"Department of Neurology, Children\u2019s Hospital 2, Ho Chi Minh City, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mai Phuong","family":"Thao","sequence":"additional","affiliation":[{"name":"Physiology \u2013 Pathophysiology \u2013 Immunology Department, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,1]]},"reference":[{"key":"e_1_3_3_2_2","unstructured":"Charcot-Marie-Tooth Disease Gene Curation Expert Panel - ClinGen | Clinical Genome Resource."},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/jns.12489"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.50797"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-022-01031-2"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1515\/medgen-2020-2038"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcma.2012.03.005"},{"key":"e_1_3_3_8_2","first-page":"109","article-title":"Strategy for genetic testing in Charcot-Marie-disease","volume":"30","author":"Miller LJ","year":"2011","unstructured":"Miller LJ, Saporta AS, Sottile SL, et al. 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