{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T14:31:39Z","timestamp":1787063499731,"version":"build-2736575974"},"reference-count":48,"publisher":"MDPI AG","issue":"14","license":[{"start":{"date-parts":[[2024,7,16]],"date-time":"2024-07-16T00:00:00Z","timestamp":1721088000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"European Union\u2019s Horizon 2020","award":["779257"],"award-info":[{"award-number":["779257"]}]},{"name":"European Union\u2019s Horizon 2020","award":["441914366"],"award-info":[{"award-number":["441914366"]}]},{"name":"European Union\u2019s Horizon 2020","award":["FPU20\/06692"],"award-info":[{"award-number":["FPU20\/06692"]}]},{"name":"Deutsche Forschungsgemeinschaft (DFG, German Research Foundation)","award":["779257"],"award-info":[{"award-number":["779257"]}]},{"name":"Deutsche Forschungsgemeinschaft (DFG, German Research Foundation)","award":["441914366"],"award-info":[{"award-number":["441914366"]}]},{"name":"Deutsche Forschungsgemeinschaft (DFG, German Research Foundation)","award":["FPU20\/06692"],"award-info":[{"award-number":["FPU20\/06692"]}]},{"name":"Ministerio de Universidades","award":["779257"],"award-info":[{"award-number":["779257"]}]},{"name":"Ministerio de Universidades","award":["441914366"],"award-info":[{"award-number":["441914366"]}]},{"name":"Ministerio de Universidades","award":["FPU20\/06692"],"award-info":[{"award-number":["FPU20\/06692"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Duchenne and Becker muscular dystrophies, caused by pathogenic variants in DMD, are the most common inherited neuromuscular conditions in childhood. These diseases follow an X-linked recessive inheritance pattern, and mainly males are affected. The most prevalent pathogenic variants in the DMD gene are copy number variants (CNVs), and most patients achieve their genetic diagnosis through Multiplex Ligation-dependent Probe Amplification (MLPA) or exome sequencing. Here, we investigated a female patient presenting with muscular dystrophy who remained genetically undiagnosed after MLPA and exome sequencing. RNA sequencing (RNAseq) from the patient\u2019s muscle biopsy identified an 85% reduction in DMD expression compared to 116 muscle samples included in the cohort. A de novo balanced translocation between chromosome 17 and the X chromosome (t(X;17)(p21.1;q23.2)) disrupting the DMD and BCAS3 genes was identified through trio whole genome sequencing (WGS). The combined analysis of RNAseq and WGS played a crucial role in the detection and characterisation of the disease-causing variant in this patient, who had been undiagnosed for over two decades. This case illustrates the diagnostic odyssey of female DMD patients with complex structural variants that are not detected by current panel or exome sequencing analysis.<\/jats:p>","DOI":"10.3390\/ijms25147793","type":"journal-article","created":{"date-parts":[[2024,7,17]],"date-time":"2024-07-17T16:35:58Z","timestamp":1721234158000},"page":"7793","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["An Integrated Transcriptomics and Genomics Approach Detects an X\/Autosome Translocation in a Female with Duchenne Muscular Dystrophy"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5185-5031","authenticated-orcid":false,"given":"Alba","family":"Segarra-Casas","sequence":"first","affiliation":[{"name":"John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, UK"},{"name":"Genetics Department, Institut de Recerca Sant Pau (IR SANT PAU), Hospital de la Santa Creu i Sant Pau, Genetics and Microbiology Department, Universitat Autonoma de Barcelona, 08041 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7916-3643","authenticated-orcid":false,"given":"Vicente A.","family":"Y\u00e9pez","sequence":"additional","affiliation":[{"name":"School of Computation, Information and Technology, Technical University of Munich, 85748 Garching, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"German","family":"Demidov","sequence":"additional","affiliation":[{"name":"Universit\u00e4tsklinikum T\u00fcbingen\u2014Institut f\u00fcr Medizinische Genetik und angewandte Genomik, 72076 T\u00fcbingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven","family":"Laurie","sequence":"additional","affiliation":[{"name":"Centro Nacional de An\u00e1lisis Gen\u00f3mico (CNAG), 08028 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Esteve-Codina","sequence":"additional","affiliation":[{"name":"Centro Nacional de An\u00e1lisis Gen\u00f3mico (CNAG), 08028 Barcelona, Spain"},{"name":"Universitat de Barcelona (UB), 08007 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8924-8365","authenticated-orcid":false,"given":"Julien","family":"Gagneur","sequence":"additional","affiliation":[{"name":"School of Computation, Information and Technology, Technical University of Munich, 85748 Garching, Germany"},{"name":"Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany"},{"name":"Computational Health Center, Helmholtz Center Munich, 85764 Neuherberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yolande","family":"Parkhurst","sequence":"additional","affiliation":[{"name":"Muscle Immunoanalysis Unit, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE7 7DN, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8901-9140","authenticated-orcid":false,"given":"Robert","family":"Muni-Lofra","sequence":"additional","affiliation":[{"name":"John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Harris","sequence":"additional","affiliation":[{"name":"John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Marini-Bettolo","sequence":"additional","affiliation":[{"name":"John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9046-3540","authenticated-orcid":false,"given":"Volker","family":"Straub","sequence":"additional","affiliation":[{"name":"John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-6050-8519","authenticated-orcid":false,"given":"Ana","family":"T\u00f6pf","sequence":"additional","affiliation":[{"name":"John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,7,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/0092-8674(88)90383-2","article-title":"The Complete Sequence of Dystrophin Predicts a Rod-Shaped Cytoskeletal Protein","volume":"53","author":"Koenig","year":"1988","journal-title":"Cell"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1016\/0092-8674(87)90579-4","article-title":"Dystrophin: The Protein Product of the Duchenne Muscular Dystrophy Locus","volume":"51","author":"Hoffman","year":"1987","journal-title":"Cell"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1016\/S1474-4422(03)00585-4","article-title":"Dystrophin and Mutations: One Gene, 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