{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T07:52:43Z","timestamp":1791359563650,"version":"4.3.1"},"reference-count":27,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T00:00:00Z","timestamp":1774224000000},"content-version":"vor","delay-in-days":81,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"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":["Human Mutation"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Dystrophinopathy comprises a group of X\u2010linked recessive muscular disorders that primarily affect skeletal and\/or cardiac muscles. Although more than 90% of dystrophinopathy patients exhibit detectable variants in the\n                      <jats:italic>DMD<\/jats:italic>\n                      gene, a small proportion of cases remain undiagnosed at the molecular level.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We employed an integrated multiomics approach, including RNA sequencing (RNA\u2010seq) of muscle tissue, optical genome mapping (OGM), short\u2010 and long\u2010read whole\u2010genome sequencing (WGS), and karyotype analysis to elucidate the genetic mechanism in a dystrophinopathy family.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Integrated genomic analyses identified a balanced reciprocal translocation between Xp21.1 and 7q31.31 in the proband, with the X\u2010chromosomal breakpoint disrupting intron 20 of\n                      <jats:italic>DMD<\/jats:italic>\n                      . RNA sequencing of muscle tissue revealed severely reduced\n                      <jats:italic>DMD<\/jats:italic>\n                      transcript coverage downstream of the breakpoint, consistent with transcriptional interruption. Muscle immunohistochemistry showed absent dystrophin staining at the N\u2010terminus, rod domain, and C\u2010terminus, confirming loss of protein expression. The translocation was maternally inherited; the mother is a carrier with a dystrophinopathy phenotype.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      We report a rare male case of dystrophinopathy caused by an X;autosome translocation disrupting\n                      <jats:italic>DMD<\/jats:italic>\n                      , thereby expanding the mutational spectrum of this disorder. Our findings underscore the value of comprehensive genomic profiling in resolving diagnostically elusive dystrophinopathy cases.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1155\/humu\/8404135","type":"journal-article","created":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T09:41:41Z","timestamp":1774258901000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["X;7 Translocation at p21.1 and q31.31 Disrupting\n                    <i>DMD<\/i>\n                    : A Multiomics Study of a Male Dystrophinopathy Case"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-4969-1639","authenticated-orcid":false,"given":"Rui","family":"Dong","sequence":"first","affiliation":[{"name":"Pediatric Research Institute Children\u2032s Hospital Affiliated to Shandong University (Jinan Children\u2032s Hospital)  Jinan Shandong Province China"},{"name":"Shandong Provincial Clinical Research Center for Children\u2032s Health and Disease Children\u2032s Hospital Affiliated to Shandong University (Jinan Children\u2032s Hospital)  Jinan Shandong Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai","family":"Ma","sequence":"additional","affiliation":[{"name":"Shandong Provincial Clinical Research Center for Children\u2032s Health and Disease Children\u2032s Hospital Affiliated to Shandong University (Jinan Children\u2032s Hospital)  Jinan Shandong Province China"},{"name":"Department of Neurology Children\u2032s Hospital Affiliated to Shandong University (Jinan Children\u2032s Hospital)  Jinan Shandong Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuexia","family":"Bai","sequence":"additional","affiliation":[{"name":"Shandong Provincial Clinical Research Center for Children\u2032s Health and Disease Children\u2032s Hospital Affiliated to Shandong University (Jinan Children\u2032s Hospital)  Jinan Shandong Province China"},{"name":"Department of Pathology Children\u2032s Hospital Affiliated to Shandong University (Jinan Children\u2032s Hospital)  Jinan Shandong Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaochen","family":"Wang","sequence":"additional","affiliation":[{"name":"Pediatric Research Institute Children\u2032s Hospital Affiliated to Shandong University (Jinan Children\u2032s Hospital)  Jinan Shandong Province China"},{"name":"Shandong Provincial Clinical Research Center for Children\u2032s Health and Disease Children\u2032s Hospital Affiliated to Shandong University (Jinan Children\u2032s Hospital)  Jinan Shandong Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Gao","sequence":"additional","affiliation":[{"name":"Pediatric Research Institute Children\u2032s Hospital Affiliated to Shandong University (Jinan Children\u2032s Hospital)  Jinan Shandong Province China"},{"name":"Shandong Provincial Clinical Research Center for Children\u2032s Health and Disease Children\u2032s Hospital Affiliated to Shandong University (Jinan Children\u2032s Hospital)  Jinan Shandong Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0211-7929","authenticated-orcid":false,"given":"Hong","family":"Qin","sequence":"additional","affiliation":[{"name":"Shandong Provincial Clinical Research Center for Children\u2032s Health and Disease Children\u2032s Hospital Affiliated to Shandong University (Jinan Children\u2032s Hospital)  Jinan Shandong Province China"},{"name":"Department of General Surgery Children\u2032s Hospital Affiliated to Shandong University (Jinan Children\u2032s Hospital)  Jinan Shandong Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4799-9133","authenticated-orcid":false,"given":"Kaihui","family":"Zhang","sequence":"additional","affiliation":[{"name":"Pediatric Research Institute Children\u2032s Hospital Affiliated to Shandong University (Jinan Children\u2032s Hospital)  Jinan Shandong Province China"},{"name":"Shandong Provincial Clinical Research Center for Children\u2032s Health and Disease Children\u2032s Hospital Affiliated to Shandong University (Jinan Children\u2032s Hospital)  Jinan Shandong Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-1810-099X","authenticated-orcid":false,"given":"Guohua","family":"Liu","sequence":"additional","affiliation":[{"name":"Pediatric Research Institute Children\u2032s Hospital Affiliated to Shandong University (Jinan Children\u2032s Hospital)  Jinan Shandong Province China"},{"name":"Shandong Provincial Clinical Research Center for Children\u2032s Health and Disease Children\u2032s Hospital Affiliated to Shandong University (Jinan Children\u2032s Hospital)  Jinan Shandong Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,3,23]]},"reference":[{"key":"e_1_2_11_1_2","doi-asserted-by":"publisher","DOI":"10.1038\/322073a0"},{"key":"e_1_2_11_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/s1474-4422(03)00585-4"},{"key":"e_1_2_11_3_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-016-1666-6"},{"key":"e_1_2_11_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32808"},{"key":"e_1_2_11_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2010.05.010"},{"key":"e_1_2_11_6_2","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.cn112137-20231217-01402"},{"key":"e_1_2_11_7_2","doi-asserted-by":"publisher","DOI":"10.1159\/000132581"},{"key":"e_1_2_11_8_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.6.484"},{"key":"e_1_2_11_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12048"},{"key":"e_1_2_11_10_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.97.12.6634"},{"key":"e_1_2_11_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature03440"},{"key":"e_1_2_11_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31096"},{"key":"e_1_2_11_13_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt513"},{"key":"e_1_2_11_14_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-023-00669-7"},{"key":"e_1_2_11_15_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms25147793"},{"key":"e_1_2_11_16_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2020-107113"},{"key":"e_1_2_11_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2010.11.001"},{"key":"e_1_2_11_18_2","first-page":"725","article-title":"Common 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