Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families
Abstract Background Congenital muscular dystrophies (CMDs) and myopathies (CMYOs) are a clinically and genetically heterogeneous group of neuromuscular disorders that share common features, such as muscle weakness, hypotonia, characteristic changes on muscle biopsy and motor retardation. In this stu...
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2025-01-01
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| Online Access: | https://doi.org/10.1186/s12891-025-08289-5 |
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| author | Bin Mao Xiaoling Cai Na Lin Yulin Jiang Na Hao Yifang Dai Danhua Guo Deqin He Huili Xue Lingji Chen Qianqian He Min Zhang Meihuan Chen Hailong Huang Liangpu Xu |
| author_facet | Bin Mao Xiaoling Cai Na Lin Yulin Jiang Na Hao Yifang Dai Danhua Guo Deqin He Huili Xue Lingji Chen Qianqian He Min Zhang Meihuan Chen Hailong Huang Liangpu Xu |
| author_sort | Bin Mao |
| collection | DOAJ |
| description | Abstract Background Congenital muscular dystrophies (CMDs) and myopathies (CMYOs) are a clinically and genetically heterogeneous group of neuromuscular disorders that share common features, such as muscle weakness, hypotonia, characteristic changes on muscle biopsy and motor retardation. In this study, we recruited eleven families with early-onset neuromuscular disorders in China, aimed to clarify the underlying genetic etiology. Methods Essential clinical tests, such as biomedical examination, electromyography and muscle biopsy, were applied to evaluate patient phenotypes. Whole exome sequencing was used to screen for prospective variants responsible for muscular diseases, followed by co-segregation analysis in the families and prenatal diagnosis via Sanger sequencing, if appropriate. Nanopore sequencing and optical genome mapping were applied for detecting complicated genome rearrangements. Results Fourteen variants in nine genes (ATL1, LMNA, KLHL40, FKRP, DMD, ACTA1, MSTO1, RYR1 and LAMA2) associated with congenital muscular conditions were identified in the ten families mentioned above. Among them, five novel variants, c.1153_1155del in LMNA, c.577 A > G in ACTA1, c.694T > G in MSTO1, c.5938del in LAMA2, and a rare genome fusion ogm[GRCh38] fus(X; X)(p22.31;p21.1) involving DMD, have not been recorded in public databases to the best of our knowledge. Conclusions CMDs and CMYOs were probably responsible for most of the cases (9/11) of genetic muscular defects in this study. Molecular analysis is highly beneficial for the precise diagnosis, genetic counseling and prenatal diagnosis of families suspected of having genetic muscular disorders. Clinical trial number Not applicable. |
| format | Article |
| id | doaj-art-2b8072c860584c1aa3763b11758b93e0 |
| institution | Kabale University |
| issn | 1471-2474 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | BMC |
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| series | BMC Musculoskeletal Disorders |
| spelling | doaj-art-2b8072c860584c1aa3763b11758b93e02025-01-19T12:04:30ZengBMCBMC Musculoskeletal Disorders1471-24742025-01-0126111410.1186/s12891-025-08289-5Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese familiesBin Mao0Xiaoling Cai1Na Lin2Yulin Jiang3Na Hao4Yifang Dai5Danhua Guo6Deqin He7Huili Xue8Lingji Chen9Qianqian He10Min Zhang11Meihuan Chen12Hailong Huang13Liangpu Xu14Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical UniversityMedical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical UniversityMedical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical UniversityDepartment of Obstetrics and Gynecology, National Clinical Research Center for Obstetric & Gynecologic Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical CollegeDepartment of Obstetrics and Gynecology, National Clinical Research Center for Obstetric & Gynecologic Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical CollegeMedical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical UniversityMedical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical UniversityMedical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical UniversityMedical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical UniversityMedical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical UniversityMedical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical UniversityMedical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical UniversityMedical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical UniversityMedical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical UniversityMedical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical UniversityAbstract Background Congenital muscular dystrophies (CMDs) and myopathies (CMYOs) are a clinically and genetically heterogeneous group of neuromuscular disorders that share common features, such as muscle weakness, hypotonia, characteristic changes on muscle biopsy and motor retardation. In this study, we recruited eleven families with early-onset neuromuscular disorders in China, aimed to clarify the underlying genetic etiology. Methods Essential clinical tests, such as biomedical examination, electromyography and muscle biopsy, were applied to evaluate patient phenotypes. Whole exome sequencing was used to screen for prospective variants responsible for muscular diseases, followed by co-segregation analysis in the families and prenatal diagnosis via Sanger sequencing, if appropriate. Nanopore sequencing and optical genome mapping were applied for detecting complicated genome rearrangements. Results Fourteen variants in nine genes (ATL1, LMNA, KLHL40, FKRP, DMD, ACTA1, MSTO1, RYR1 and LAMA2) associated with congenital muscular conditions were identified in the ten families mentioned above. Among them, five novel variants, c.1153_1155del in LMNA, c.577 A > G in ACTA1, c.694T > G in MSTO1, c.5938del in LAMA2, and a rare genome fusion ogm[GRCh38] fus(X; X)(p22.31;p21.1) involving DMD, have not been recorded in public databases to the best of our knowledge. Conclusions CMDs and CMYOs were probably responsible for most of the cases (9/11) of genetic muscular defects in this study. Molecular analysis is highly beneficial for the precise diagnosis, genetic counseling and prenatal diagnosis of families suspected of having genetic muscular disorders. Clinical trial number Not applicable.https://doi.org/10.1186/s12891-025-08289-5Congenital muscular dystrophyCongenital myopathyMolecular analysisOptical genome mappingPrenatal diagnosis |
| spellingShingle | Bin Mao Xiaoling Cai Na Lin Yulin Jiang Na Hao Yifang Dai Danhua Guo Deqin He Huili Xue Lingji Chen Qianqian He Min Zhang Meihuan Chen Hailong Huang Liangpu Xu Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families BMC Musculoskeletal Disorders Congenital muscular dystrophy Congenital myopathy Molecular analysis Optical genome mapping Prenatal diagnosis |
| title | Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families |
| title_full | Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families |
| title_fullStr | Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families |
| title_full_unstemmed | Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families |
| title_short | Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families |
| title_sort | congenital muscular dystrophies and myopathies the leading cause of genetic muscular disorders in eleven chinese families |
| topic | Congenital muscular dystrophy Congenital myopathy Molecular analysis Optical genome mapping Prenatal diagnosis |
| url | https://doi.org/10.1186/s12891-025-08289-5 |
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