The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants
Abstract Background Dysferlinopathy is an autosomal recessive muscular dystrophy caused by pathogenic variants in the dysferlin (DYSF) gene. This disease shows heterogeneous clinical phenotypes and genetic characteristics. Methods We reviewed the clinical and pathological data as well as the molecul...
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| Format: | Article |
| Language: | English |
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BMC
2022-11-01
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| Series: | BMC Neurology |
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| Online Access: | https://doi.org/10.1186/s12883-022-02905-w |
| _version_ | 1798044524510969856 |
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| author | Ning Wang Xu Han Shengpu Hao Jingzhe Han Xiaomeng Zhou Shuyan Sun Jin Tang Yanpeng Lu Hongran Wu Shaojuan Ma Xueqin Song Guang Ji |
| author_facet | Ning Wang Xu Han Shengpu Hao Jingzhe Han Xiaomeng Zhou Shuyan Sun Jin Tang Yanpeng Lu Hongran Wu Shaojuan Ma Xueqin Song Guang Ji |
| author_sort | Ning Wang |
| collection | DOAJ |
| description | Abstract Background Dysferlinopathy is an autosomal recessive muscular dystrophy caused by pathogenic variants in the dysferlin (DYSF) gene. This disease shows heterogeneous clinical phenotypes and genetic characteristics. Methods We reviewed the clinical and pathological data as well as the molecular characteristics of 26 Chinese patients with dysferlinopathy screened by immunohistochemistry staining and pathogenic variants in DYSF genes. Results Among 26 patients with dysferlinopathy, 18 patients (69.2%) presented as Limb-girdle Muscular Dystrophy Type R2 (LGMD R2), 4 (15.4%) had a phenotype of Miyoshi myopathy (MM), and 4 (15.4%) presented as asymptomatic hyperCKemia. Fifteen patients (57.7%) were originally misdiagnosed as inflammatory myopathy or other diseases. Fifteen novel variants were identified among the 40 variant sites identified in this cohort. Conclusion Dysferlinopathy is a clinically and genetically heterogeneous group of disorders with various phenotypes, a high proportion of novel variants, and a high rate of misdiagnosis before immunohistochemistry staining and genetic analysis. |
| first_indexed | 2024-04-11T23:05:38Z |
| format | Article |
| id | doaj.art-b97d9b8897ed4ec1814afd8e66cd1d4c |
| institution | Directory Open Access Journal |
| issn | 1471-2377 |
| language | English |
| last_indexed | 2024-04-11T23:05:38Z |
| publishDate | 2022-11-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Neurology |
| spelling | doaj.art-b97d9b8897ed4ec1814afd8e66cd1d4c2022-12-22T03:58:02ZengBMCBMC Neurology1471-23772022-11-0122111110.1186/s12883-022-02905-wThe clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variantsNing Wang0Xu Han1Shengpu Hao2Jingzhe Han3Xiaomeng Zhou4Shuyan Sun5Jin Tang6Yanpeng Lu7Hongran Wu8Shaojuan Ma9Xueqin Song10Guang Ji11Department of Neurology, The Second Hospital of Hebei Medical UniversityDepartment of Neurology, The Second Hospital of Hebei Medical UniversityDepartment of Neurology, The Second Hospital of Hebei Medical UniversityDepartment of Neurology, The Second Hospital of Hebei Medical UniversityMyGenosticsIncDepartment of Neurology, The Second Hospital of Hebei Medical UniversityDepartment of Neurology, The Second Hospital of Hebei Medical UniversityDepartment of Neurology, The Second Hospital of Hebei Medical UniversityDepartment of Neurology, The Second Hospital of Hebei Medical UniversityDepartment of Neurology, The Second Hospital of Hebei Medical UniversityDepartment of Neurology, The Second Hospital of Hebei Medical UniversityDepartment of Neurology, The Second Hospital of Hebei Medical UniversityAbstract Background Dysferlinopathy is an autosomal recessive muscular dystrophy caused by pathogenic variants in the dysferlin (DYSF) gene. This disease shows heterogeneous clinical phenotypes and genetic characteristics. Methods We reviewed the clinical and pathological data as well as the molecular characteristics of 26 Chinese patients with dysferlinopathy screened by immunohistochemistry staining and pathogenic variants in DYSF genes. Results Among 26 patients with dysferlinopathy, 18 patients (69.2%) presented as Limb-girdle Muscular Dystrophy Type R2 (LGMD R2), 4 (15.4%) had a phenotype of Miyoshi myopathy (MM), and 4 (15.4%) presented as asymptomatic hyperCKemia. Fifteen patients (57.7%) were originally misdiagnosed as inflammatory myopathy or other diseases. Fifteen novel variants were identified among the 40 variant sites identified in this cohort. Conclusion Dysferlinopathy is a clinically and genetically heterogeneous group of disorders with various phenotypes, a high proportion of novel variants, and a high rate of misdiagnosis before immunohistochemistry staining and genetic analysis.https://doi.org/10.1186/s12883-022-02905-wDysferlinLGMD R2Atypical asymptomatic hyperCKemiaMuscle pathology |
| spellingShingle | Ning Wang Xu Han Shengpu Hao Jingzhe Han Xiaomeng Zhou Shuyan Sun Jin Tang Yanpeng Lu Hongran Wu Shaojuan Ma Xueqin Song Guang Ji The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants BMC Neurology Dysferlin LGMD R2 Atypical asymptomatic hyperCKemia Muscle pathology |
| title | The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants |
| title_full | The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants |
| title_fullStr | The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants |
| title_full_unstemmed | The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants |
| title_short | The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants |
| title_sort | clinical myopathological and molecular characteristics of 26 chinese patients with dysferlinopathy a high proportion of misdiagnosis and novel variants |
| topic | Dysferlin LGMD R2 Atypical asymptomatic hyperCKemia Muscle pathology |
| url | https://doi.org/10.1186/s12883-022-02905-w |
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