Incidental finding of a DMD exons 48–55 deletion during prenatal diagnosis
BackgroundDMD genetic variants cause a spectrum of phenotypes, from severe progressive proximal muscle weakness and degeneration leading to wheelchair dependence and death from cardiac and/or respiratory failure to very mild muscular phenotypes; very rarely, cases are completely asymptomatic. Few ca...
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Frontiers Media S.A.
2025-04-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1541468/full |
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| author | Min Zhang Zhaodong Lin Meihuan Chen Danhua Guo Qiaomei Yang Qianqian He Bin Mao Bin Liang Lingji Chen Meiying Cai Hailong Huang Liangpu Xu |
| author_facet | Min Zhang Zhaodong Lin Meihuan Chen Danhua Guo Qiaomei Yang Qianqian He Bin Mao Bin Liang Lingji Chen Meiying Cai Hailong Huang Liangpu Xu |
| author_sort | Min Zhang |
| collection | DOAJ |
| description | BackgroundDMD genetic variants cause a spectrum of phenotypes, from severe progressive proximal muscle weakness and degeneration leading to wheelchair dependence and death from cardiac and/or respiratory failure to very mild muscular phenotypes; very rarely, cases are completely asymptomatic. Few cases have been reported in males carrying DMD deletions who are asymptomatic.MethodsFamily clinical information was collected from the patients. A single nucleotide polymorphism array (SNP-array) was used to detect abnormalities in prenatal diagnosis, and multiplex ligation-dependent probe amplification (MLPA) and long-read sequencing (LRS) were used to confirm the detected variant.ResultsWe incidentally identified DMD exons 48–55 deletion using SNP-array in prenatal diagnosis; the variant was confirmed using MLPA and LRS, and the fragment size and precise locations of breakpoints were determined. The variant was precisely located at genomic position chrX:31640088–31945085, spanning from intron 47 to intron 56 in DMD. Serum biochemical indicators were normal in the male with the deletion.ConclusionOur study is the first to report a DMD exons 48–55 deletion in prenatal diagnosis. The phenotypes of DMD variants are diverse, and this study suggests that prediction of clinical severity based solely on molecular findings should be interpreted with caution. |
| format | Article |
| id | doaj-art-834a976aef4e4e2ca2e9768e8f1dc3d9 |
| institution | OA Journals |
| issn | 2296-2360 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Pediatrics |
| spelling | doaj-art-834a976aef4e4e2ca2e9768e8f1dc3d92025-08-20T02:13:12ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-04-011310.3389/fped.2025.15414681541468Incidental finding of a DMD exons 48–55 deletion during prenatal diagnosisMin Zhang0Zhaodong Lin1Meihuan Chen2Danhua Guo3Qiaomei Yang4Qianqian He5Bin Mao6Bin Liang7Lingji Chen8Meiying Cai9Hailong Huang10Liangpu Xu11Fujian Key Laboratory of Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, Fuzhou, Fujian, ChinaDepartment of Clinical Laboratory, Fuzhou First General Hospital, Fuzhou, Fujian, ChinaFujian Key Laboratory of Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, Fuzhou, Fujian, ChinaFujian Key Laboratory of Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, Fuzhou, Fujian, ChinaDepartment of Gynecology, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian, ChinaFujian Key Laboratory of Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, Fuzhou, Fujian, ChinaFujian Key Laboratory of Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, Fuzhou, Fujian, ChinaFujian Key Laboratory of Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, Fuzhou, Fujian, ChinaFujian Key Laboratory of Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, Fuzhou, Fujian, ChinaFujian Key Laboratory of Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, Fuzhou, Fujian, ChinaFujian Key Laboratory of Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, Fuzhou, Fujian, ChinaFujian Key Laboratory of Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, Fuzhou, Fujian, ChinaBackgroundDMD genetic variants cause a spectrum of phenotypes, from severe progressive proximal muscle weakness and degeneration leading to wheelchair dependence and death from cardiac and/or respiratory failure to very mild muscular phenotypes; very rarely, cases are completely asymptomatic. Few cases have been reported in males carrying DMD deletions who are asymptomatic.MethodsFamily clinical information was collected from the patients. A single nucleotide polymorphism array (SNP-array) was used to detect abnormalities in prenatal diagnosis, and multiplex ligation-dependent probe amplification (MLPA) and long-read sequencing (LRS) were used to confirm the detected variant.ResultsWe incidentally identified DMD exons 48–55 deletion using SNP-array in prenatal diagnosis; the variant was confirmed using MLPA and LRS, and the fragment size and precise locations of breakpoints were determined. The variant was precisely located at genomic position chrX:31640088–31945085, spanning from intron 47 to intron 56 in DMD. Serum biochemical indicators were normal in the male with the deletion.ConclusionOur study is the first to report a DMD exons 48–55 deletion in prenatal diagnosis. The phenotypes of DMD variants are diverse, and this study suggests that prediction of clinical severity based solely on molecular findings should be interpreted with caution.https://www.frontiersin.org/articles/10.3389/fped.2025.1541468/fullDMDasymptomaticSNP-arrayMLPALRS |
| spellingShingle | Min Zhang Zhaodong Lin Meihuan Chen Danhua Guo Qiaomei Yang Qianqian He Bin Mao Bin Liang Lingji Chen Meiying Cai Hailong Huang Liangpu Xu Incidental finding of a DMD exons 48–55 deletion during prenatal diagnosis Frontiers in Pediatrics DMD asymptomatic SNP-array MLPA LRS |
| title | Incidental finding of a DMD exons 48–55 deletion during prenatal diagnosis |
| title_full | Incidental finding of a DMD exons 48–55 deletion during prenatal diagnosis |
| title_fullStr | Incidental finding of a DMD exons 48–55 deletion during prenatal diagnosis |
| title_full_unstemmed | Incidental finding of a DMD exons 48–55 deletion during prenatal diagnosis |
| title_short | Incidental finding of a DMD exons 48–55 deletion during prenatal diagnosis |
| title_sort | incidental finding of a dmd exons 48 55 deletion during prenatal diagnosis |
| topic | DMD asymptomatic SNP-array MLPA LRS |
| url | https://www.frontiersin.org/articles/10.3389/fped.2025.1541468/full |
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