The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants

BMC Neurology

卷:22

Research

Xu Han¹  Hongran Wu¹  Xueqin Song¹  Shengpu Hao¹  Shaojuan Ma¹  Jingzhe Han¹  Ning Wang¹  Yanpeng Lu¹  Guang Ji¹  Jin Tang¹  Shuyan Sun¹  Xiaomeng Zhou² 

[1] Department of Neurology, The Second Hospital of Hebei Medical University, 050000, Shijiazhuang, Hebei, People’s Republic of China;The Key Laboratory of Neurology (Hebei Medical University), Ministry of Education, 050000, Shijiazhuang, Hebei, People’s Republic of China;

[2] MyGenosticsInc, Beijing, China;

关键词: Dysferlin;    LGMD R2;    Atypical asymptomatic hyperCKemia;    Muscle pathology;   

DOI  :  10.1186/s12883-022-02905-w

 received in 2022-06-19, accepted in 2022-09-27,  发布年份 2022

来源: Springer

【 摘 要 】

BackgroundDysferlinopathy is an autosomal recessive muscular dystrophy caused by pathogenic variants in the dysferlin (DYSF) gene. This disease shows heterogeneous clinical phenotypes and genetic characteristics.MethodsWe 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.ResultsAmong 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.ConclusionDysferlinopathy 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.

【 授权许可】

CC BY   
© The Author(s) 2022

【 图 表 】

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