A novel splicing mutation identified in a DMD patient: a case report
BackgroundDuchenne muscular dystrophy (DMD, ORPHA:98896) is a lethal X-linked recessive disease that manifests as progressive muscular weakness and wasting. Mutations in the dystrophy gene (DMD) are the main cause of Duchenne muscular dystrophy.Case presentationThis study aims to determine novel mut...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-11-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2023.1261318/full |
| _version_ | 1797563507196035072 |
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| author | Yuting Wen Luo Yang Gan Shen Siyu Dai Jing Wang Jing Wang Xiang Wang Xiang Wang |
| author_facet | Yuting Wen Luo Yang Gan Shen Siyu Dai Jing Wang Jing Wang Xiang Wang Xiang Wang |
| author_sort | Yuting Wen |
| collection | DOAJ |
| description | BackgroundDuchenne muscular dystrophy (DMD, ORPHA:98896) is a lethal X-linked recessive disease that manifests as progressive muscular weakness and wasting. Mutations in the dystrophy gene (DMD) are the main cause of Duchenne muscular dystrophy.Case presentationThis study aims to determine novel mutations of DMD and help preimplantation genetic diagnosis (PGD) for family planning. Here present a 4-year-old Chinses boy with DMD, whole-exome sequencing (WES) was performed to identify the molecular basis of the disease. It was confirmed that the boy carried a novel hemizygous mutation of NC_000023.11(NM_004006.3): c.5912_5922 + 19delinsATGTATG in DMD which inherited from his mother. This led to the aberrant splicing of DMD which demonstrated by a minigene splicing assay and further resulted in the impairment of the dystrophy protein.ConclusionsOur study discovered a novel splicing mutation of DMD in a DMD patient, which expands the variant spectrum of this gene and provide precise genetic diagnosis of DMD for timely therapy. Meanwhile, this finding will supply valuable information for preimplantation genetic diagnosis. |
| first_indexed | 2024-03-10T18:44:36Z |
| format | Article |
| id | doaj.art-7fdcef1ad38442f0aee6e3c7c70bc659 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-03-10T18:44:36Z |
| publishDate | 2023-11-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-7fdcef1ad38442f0aee6e3c7c70bc6592023-11-20T05:37:10ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602023-11-011110.3389/fped.2023.12613181261318A novel splicing mutation identified in a DMD patient: a case reportYuting Wen0Luo Yang1Gan Shen2Siyu Dai3Jing Wang4Jing Wang5Xiang Wang6Xiang Wang7Department of Obstetrics and Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, ChinaDepartment of Urology & Pelvic Surgery, West China School of Public Health and West China Fourth Hospital, Sichuan University, Chengdu, ChinaDepartment of Obstetrics and Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, ChinaDepartment of Obstetrics and Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, ChinaDepartment of Obstetrics and Gynecology, West China Second University Hospital of Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, ChinaDepartment of Obstetrics and Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, ChinaNHC Key Laboratory of Chronobiology, Sichuan University, Chengdu, ChinaBackgroundDuchenne muscular dystrophy (DMD, ORPHA:98896) is a lethal X-linked recessive disease that manifests as progressive muscular weakness and wasting. Mutations in the dystrophy gene (DMD) are the main cause of Duchenne muscular dystrophy.Case presentationThis study aims to determine novel mutations of DMD and help preimplantation genetic diagnosis (PGD) for family planning. Here present a 4-year-old Chinses boy with DMD, whole-exome sequencing (WES) was performed to identify the molecular basis of the disease. It was confirmed that the boy carried a novel hemizygous mutation of NC_000023.11(NM_004006.3): c.5912_5922 + 19delinsATGTATG in DMD which inherited from his mother. This led to the aberrant splicing of DMD which demonstrated by a minigene splicing assay and further resulted in the impairment of the dystrophy protein.ConclusionsOur study discovered a novel splicing mutation of DMD in a DMD patient, which expands the variant spectrum of this gene and provide precise genetic diagnosis of DMD for timely therapy. Meanwhile, this finding will supply valuable information for preimplantation genetic diagnosis.https://www.frontiersin.org/articles/10.3389/fped.2023.1261318/fullDMDDuchenne muscular dystrophypreimplantation genetic diagnosissplicing mutationcase report |
| spellingShingle | Yuting Wen Luo Yang Gan Shen Siyu Dai Jing Wang Jing Wang Xiang Wang Xiang Wang A novel splicing mutation identified in a DMD patient: a case report Frontiers in Pediatrics DMD Duchenne muscular dystrophy preimplantation genetic diagnosis splicing mutation case report |
| title | A novel splicing mutation identified in a DMD patient: a case report |
| title_full | A novel splicing mutation identified in a DMD patient: a case report |
| title_fullStr | A novel splicing mutation identified in a DMD patient: a case report |
| title_full_unstemmed | A novel splicing mutation identified in a DMD patient: a case report |
| title_short | A novel splicing mutation identified in a DMD patient: a case report |
| title_sort | novel splicing mutation identified in a dmd patient a case report |
| topic | DMD Duchenne muscular dystrophy preimplantation genetic diagnosis splicing mutation case report |
| url | https://www.frontiersin.org/articles/10.3389/fped.2023.1261318/full |
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