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are the main type of dystrophin gene (DMD) variants, which typically cause dystrophinopathies such as Duchenne muscular dystrophy and Becker muscular dystrophy. Maternally inherited exon duplication in DMD in fetuses is a relatively common finding of genetic screening in clinical practice. However, there is no standard strategy for interpretation of the pathogenicity of DMD duplications during prenatal screening, especially for male fetuses, in which maternally inherited pathogenic DMD variants more frequently cause dystrophinopathies. Here, we report three non-contiguous DMD duplications identified in a woman and her male fetus during prenatal screening. Multiplex ligation probe amplification and long-read sequencing were performed on the woman and her family members to verify the presence of DMD duplications. Structural rearrangements in the DMD gene were mapped by long-read sequencing, and the breakpoint junction sequences were validated using Sanger sequencing. The woman and her father carried three non-contiguous DMD duplications. Long-read and Sanger sequencing revealed that the woman\u2019s father carried an intact DMD copy and a complex structural rearrangement of the DMD gene. Therefore, we reclassified these three non-contiguous DMD duplications, one of which is listed as pathogenic, as benign. We postulate that breakpoint analysis should be performed on identified DMD duplication variants, and the pathogenicity of the duplications found during prenatal screening should be interpreted cautiously for clinical prediction and genetic\/reproductive counseling.<\/jats:p>","DOI":"10.3390\/genes13111972","type":"journal-article","created":{"date-parts":[[2022,10,30]],"date-time":"2022-10-30T04:57:34Z","timestamp":1667105854000},"page":"1972","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Reclassification of DMD Duplications as Benign: Recommendations for Cautious Interpretation of Variants Identified in Prenatal Screening"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1966-5075","authenticated-orcid":false,"given":"Wenbin","family":"He","sequence":"first","affiliation":[{"name":"Institute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem 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Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha 410008, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hao","family":"Hu","sequence":"additional","affiliation":[{"name":"National Engineering and Research Center of Human Stem Cells, Changsha 410006, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yueqiu","family":"Tan","sequence":"additional","affiliation":[{"name":"Institute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, School of Basic Medical Science, Central South University, Changsha 410008, China"},{"name":"National Engineering and Research Center of Human Stem Cells, Changsha 410006, China"},{"name":"Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha 410008, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qianjun","family":"Zhang","sequence":"additional","affiliation":[{"name":"Institute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, School of Basic Medical Science, Central South University, Changsha 410008, China"},{"name":"National Engineering and Research Center of Human Stem Cells, Changsha 410006, China"},{"name":"Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha 410008, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guangxiu","family":"Lu","sequence":"additional","affiliation":[{"name":"Institute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, School of Basic Medical Science, Central South University, Changsha 410008, China"},{"name":"National Engineering and Research Center of Human Stem Cells, Changsha 410006, China"},{"name":"Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha 410008, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ge","family":"Lin","sequence":"additional","affiliation":[{"name":"Institute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, School of Basic Medical Science, Central South University, Changsha 410008, China"},{"name":"National Engineering and Research Center of Human Stem Cells, Changsha 410006, China"},{"name":"Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha 410008, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan","family":"Du","sequence":"additional","affiliation":[{"name":"Institute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of 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