{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T22:35:29Z","timestamp":1789166129198,"version":"build-2803163510"},"reference-count":13,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2024,9,21]],"date-time":"2024-09-21T00:00:00Z","timestamp":1726876800000},"content-version":"vor","delay-in-days":20,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002341","name":"Academy of Finland","doi-asserted-by":"publisher","award":["338446"],"award-info":[{"award-number":["338446"]}],"id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002341","name":"Academy of Finland","doi-asserted-by":"publisher","award":["356676"],"award-info":[{"award-number":["356676"]}],"id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002341","name":"Academy of Finland","doi-asserted-by":"publisher","award":["38374"],"award-info":[{"award-number":["38374"]}],"id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>X\u2010linked recessive type 3 Charcot\u2013Marie\u2013Tooth (CMTX3) is a rare subtype of childhood\u2010onset CMT. To date, all reported CMTX3 patients share a common founder 78\u2009kb insertion from chromosome 8 into the Xq27.1 palindrome region.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We conducted patient\u2013parent trio optical genome mapping (OGM) on a male patient presenting with clinically diagnosed Dejerine\u2013Sottas disease for whom initial standard diagnostic genetic tests, including whole\u2010genome sequencing (WGS), yielded negative results.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>OGM analysis revealed a maternally inherited interchromosomal insertion from chromosome region 7q31.1 into Xq27.1. Coupled with manual reassessment of WGS data, this confirmed the molecular diagnosis of atypical CMTX3 and showed that the 122.4\u2009kb inserted fragment contained <jats:italic>DLD<\/jats:italic> and partially <jats:italic>LAMB1<\/jats:italic>. Subsequent analyses confirmed that the rearrangement had arisen de novo in the proband's mother.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We report the second Xq27.1 rearrangement associated with CMTX3, providing novel clinical insights into its phenotypic and genotypic spectrum. Our findings highlight the importance of including genomic rearrangement analysis of Xq27.1 in standard diagnostic pipelines for childhood\u2010onset CMT. Given the overlap in polyneuropathy phenotypes resulting from insertions from chromosomes 7 and 8 into the same Xq27.1 palindrome region, the pathogenic mechanism underlying peripheral neuropathy in CMTX3 likely involves dysregulation of genes within this region.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.70014","type":"journal-article","created":{"date-parts":[[2024,9,21]],"date-time":"2024-09-21T07:44:10Z","timestamp":1726904650000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Optical Genome Mapping Identifies a Second Xq27.1 Rearrangement Associated With Charcot\u2013Marie\u2013Tooth Neuropathy <scp>CMTX3<\/scp>"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2760-7059","authenticated-orcid":false,"given":"Elisa","family":"Rahikkala","sequence":"first","affiliation":[{"name":"Department of Genomics Turku University Hospital  Turku Finland"},{"name":"Research Unit of Clinical Medicine and Medical Research Center Oulu Oulu University Hospital and University of Oulu  Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonna","family":"Komulainen\u2010Ebrahim","sequence":"additional","affiliation":[{"name":"Research Unit of Clinical Medicine and Medical Research Center Oulu Oulu University Hospital and University of Oulu  Oulu Finland"},{"name":"Division of Pediatric Neurology, Department of Children and Adolescents Oulu University Hospital  Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7350-386X","authenticated-orcid":false,"given":"Jussi\u2010Pekka","family":"Tolonen","sequence":"additional","affiliation":[{"name":"Research Unit of Clinical Medicine and Medical Research Center Oulu Oulu University Hospital and University of Oulu  Oulu Finland"},{"name":"Division of Pediatric Neurology, Department of Children and Adolescents Oulu University Hospital  Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Vorimo","sequence":"additional","affiliation":[{"name":"Laboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit, Medical Research Center Oulu and Biocenter Oulu University of Oulu  Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Suo\u2010Palosaari","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Radiology, Physics and Technology, Research Unit of Health Sciences and Technology University of Oulu  Oulu Finland"},{"name":"Medical Research Center Oulu Oulu University Hospital and University of Oulu  Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P\u00e4ivi","family":"Vieira","sequence":"additional","affiliation":[{"name":"Research Unit of Clinical Medicine and Medical Research Center Oulu Oulu University Hospital and University of Oulu  Oulu Finland"},{"name":"Division 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