Duchenne muscular dystrophy caused by a deletion (c.5021del) in exon 35 of the DMD gene: A case report and review of the literature
Duchenne muscular dystrophy (DMD MIM#310200) is a degenerative muscle disease caused by mutations in the dystrophin gene located on Xp21.2. The clinical features encompass muscle weakness and markedly elevated serum creatine kinase levels. An 8-year-old Chinese boy was diagnosed with Duchenne muscul...
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| Format: | Article |
| Language: | English |
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Elsevier
2024-04-01
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| Series: | Heliyon |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S240584402404708X |
| _version_ | 1827301507442147328 |
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| author | Yue Liu Yanhui Tang Hui Zhang Hongying Chen Qing Luo Jinbo Liu |
| author_facet | Yue Liu Yanhui Tang Hui Zhang Hongying Chen Qing Luo Jinbo Liu |
| author_sort | Yue Liu |
| collection | DOAJ |
| description | Duchenne muscular dystrophy (DMD MIM#310200) is a degenerative muscle disease caused by mutations in the dystrophin gene located on Xp21.2. The clinical features encompass muscle weakness and markedly elevated serum creatine kinase levels. An 8-year-old Chinese boy was diagnosed with Duchenne muscular dystrophy (DMD). Whole exome gene sequencing was conducted and the Sanger method was used to validate sequencing. A deletion (c.5021del) in exon 35 of the dystrophin gene was identified, which was predicted to generate a frameshift mutation and create an early termination codon (p.Leu1674CysfsTer47). It has a pathogenic effect against dystrophin in the muscle cell membrane of the patient. As such, prednisone treatment at a dose of 0.75 mg/kg.d was administered. After one month, a notable reduction in fall frequency was observed. Our new finding will expand the pathogenic mutation spectrum causing DMD. |
| first_indexed | 2024-04-24T16:25:33Z |
| format | Article |
| id | doaj.art-3ba4af0b9fbf4c25a9a5f8262c1a3cef |
| institution | Directory Open Access Journal |
| issn | 2405-8440 |
| language | English |
| last_indexed | 2024-04-24T16:25:33Z |
| publishDate | 2024-04-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Heliyon |
| spelling | doaj.art-3ba4af0b9fbf4c25a9a5f8262c1a3cef2024-03-31T04:37:38ZengElsevierHeliyon2405-84402024-04-01107e28677Duchenne muscular dystrophy caused by a deletion (c.5021del) in exon 35 of the DMD gene: A case report and review of the literatureYue Liu0Yanhui Tang1Hui Zhang2Hongying Chen3Qing Luo4Jinbo Liu5Department of Laboratory Medicine, The Affiliated Hospital of Southwest Medical University, Luzhou, China; Sichuan Province Engineering Technology Research Center of Molecular Diagnosis of Clinical Diseases, Luzhou, China; Molecular Diagnosis of Clinical Diseases Key Laboratory of Luzhou, Luzhou, ChinaDepartment of Pediatric, The Affiliated Hospital of Southwest Medical University, Luzhou, ChinaDepartment of Laboratory Medicine, The Affiliated Hospital of Southwest Medical University, Luzhou, China; Sichuan Province Engineering Technology Research Center of Molecular Diagnosis of Clinical Diseases, Luzhou, China; Molecular Diagnosis of Clinical Diseases Key Laboratory of Luzhou, Luzhou, ChinaDepartment of Pediatric, The Affiliated Hospital of Southwest Medical University, Luzhou, ChinaDepartment of Laboratory Medicine, The Affiliated Hospital of Southwest Medical University, Luzhou, China; Sichuan Province Engineering Technology Research Center of Molecular Diagnosis of Clinical Diseases, Luzhou, China; Molecular Diagnosis of Clinical Diseases Key Laboratory of Luzhou, Luzhou, ChinaDepartment of Laboratory Medicine, The Affiliated Hospital of Southwest Medical University, Luzhou, China; Sichuan Province Engineering Technology Research Center of Molecular Diagnosis of Clinical Diseases, Luzhou, China; Molecular Diagnosis of Clinical Diseases Key Laboratory of Luzhou, Luzhou, China; Corresponding author. Department of Laboratory Medicine, The Affiliated Hospital of Southwest Medical University, Luzhou, China.Duchenne muscular dystrophy (DMD MIM#310200) is a degenerative muscle disease caused by mutations in the dystrophin gene located on Xp21.2. The clinical features encompass muscle weakness and markedly elevated serum creatine kinase levels. An 8-year-old Chinese boy was diagnosed with Duchenne muscular dystrophy (DMD). Whole exome gene sequencing was conducted and the Sanger method was used to validate sequencing. A deletion (c.5021del) in exon 35 of the dystrophin gene was identified, which was predicted to generate a frameshift mutation and create an early termination codon (p.Leu1674CysfsTer47). It has a pathogenic effect against dystrophin in the muscle cell membrane of the patient. As such, prednisone treatment at a dose of 0.75 mg/kg.d was administered. After one month, a notable reduction in fall frequency was observed. Our new finding will expand the pathogenic mutation spectrum causing DMD.http://www.sciencedirect.com/science/article/pii/S240584402404708XDuchenne muscular dystrophyGene mutationFrameshiftDystrophinCase report |
| spellingShingle | Yue Liu Yanhui Tang Hui Zhang Hongying Chen Qing Luo Jinbo Liu Duchenne muscular dystrophy caused by a deletion (c.5021del) in exon 35 of the DMD gene: A case report and review of the literature Heliyon Duchenne muscular dystrophy Gene mutation Frameshift Dystrophin Case report |
| title | Duchenne muscular dystrophy caused by a deletion (c.5021del) in exon 35 of the DMD gene: A case report and review of the literature |
| title_full | Duchenne muscular dystrophy caused by a deletion (c.5021del) in exon 35 of the DMD gene: A case report and review of the literature |
| title_fullStr | Duchenne muscular dystrophy caused by a deletion (c.5021del) in exon 35 of the DMD gene: A case report and review of the literature |
| title_full_unstemmed | Duchenne muscular dystrophy caused by a deletion (c.5021del) in exon 35 of the DMD gene: A case report and review of the literature |
| title_short | Duchenne muscular dystrophy caused by a deletion (c.5021del) in exon 35 of the DMD gene: A case report and review of the literature |
| title_sort | duchenne muscular dystrophy caused by a deletion c 5021del in exon 35 of the dmd gene a case report and review of the literature |
| topic | Duchenne muscular dystrophy Gene mutation Frameshift Dystrophin Case report |
| url | http://www.sciencedirect.com/science/article/pii/S240584402404708X |
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