{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,29]],"date-time":"2026-03-29T16:27:47Z","timestamp":1774801667249,"version":"3.50.1"},"reference-count":21,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2014,9,15]],"date-time":"2014-09-15T00:00:00Z","timestamp":1410739200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2014,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Genomic rearrangements such as intragenic deletions and duplications are the most prevalent type of mutations in the dystrophin gene resulting in Duchenne and Becker muscular dystrophy (D\/BMD). These copy number variations (CNVs) are nonrecurrent and can result from either nonhomologous end joining (NHEJ) or microhomology\u2010mediated replication\u2010dependent recombination (MMRDR). We characterized five DMD patients with complex genomic rearrangements using a combination of MLPA\/<jats:styled-content style=\"fixed-case\">mRNA<\/jats:styled-content> transcript analysis\/custom array comparative hybridization arrays (CGH) and breakpoint sequence analysis to investigate the mechanisms for these rearrangements. Two patients had complex rearrangements that involved microhomologies at breakpoints. One patient had a noncontiguous insertion of 89.7\u00a0kb chromosome 4 into intron 43 of <jats:italic>DMD<\/jats:italic> involving three breakpoints with 2\u20135\u00a0bp microhomology at the junctions. A second patient had an inversion of exon 44 flanked by intronic deletions with two breakpoint junctions each showing 2\u00a0bp microhomology. The third patient was a female with an inherited deletion of exon 47 in <jats:italic>DMD<\/jats:italic> on the maternal allele and a de novo noncontiguous duplication of exons 45\u201349 in <jats:italic>DMD<\/jats:italic> and <jats:italic>MID1<\/jats:italic> on the paternal allele. The other two patients harbored complex noncontiguous duplications within the dystrophin gene. We propose a replication\u2010based mechanisms for all five complex <jats:italic>DMD<\/jats:italic> rearrangements. This study identifies additional underlying mechanisms in DMD, and provides insight into the molecular bases of these genomic rearrangements.<\/jats:p>","DOI":"10.1002\/mgg3.108","type":"journal-article","created":{"date-parts":[[2014,9,15]],"date-time":"2014-09-15T07:40:20Z","timestamp":1410766820000},"page":"539-547","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Complex genomic rearrangements in the dystrophin gene due to replication\u2010based mechanisms"],"prefix":"10.1002","volume":"2","author":[{"given":"Berivan","family":"Baskin","sequence":"first","affiliation":[{"name":"Department of Immunology, Genetics and Pathology The Rudbeck Laboratory Uppsala University Uppsala Sweden"},{"name":"The Centre for Applied Genomics The Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dimitri J.","family":"Stavropoulos","sequence":"additional","affiliation":[{"name":"The Centre for Applied Genomics The Hospital for Sick Children Toronto Ontario Canada"},{"name":"Department of Laboratory Medicine and Pathology University of Toronto Toronto Ontario Canada"},{"name":"Division of Molecular Genetics The Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paige A.","family":"Rebeiro","sequence":"additional","affiliation":[{"name":"The Centre for Applied Genomics The Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer","family":"Orr","sequence":"additional","affiliation":[{"name":"Division of Molecular Genetics The Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Li","sequence":"additional","affiliation":[{"name":"Division of Molecular Genetics The Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leslie","family":"Steele","sequence":"additional","affiliation":[{"name":"Division of Molecular Genetics The Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian R.","family":"Marshall","sequence":"additional","affiliation":[{"name":"The Centre for Applied Genomics The Hospital for Sick Children Toronto Ontario Canada"},{"name":"Division of Molecular Genetics The Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edmond G.","family":"Lemire","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Royal University Hospital &amp; 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