A novel mutation in the DYSF gene in a patient with a presumed inflammatory myopathy

作者：Tang, Jin; Song, Xueqin^*; Ji, Guang; Wu, Hongran; Sun, Shuyan; Lu, Shan; Li, Yuan; Zhang, Chi; Zhang, Huiqing

来源：Neuropathology, 2018, 38(4): 433-437.

DOI：10.1111/neup.12474

• DYSF
• inflammatory myopathy
• LGMD2B
• muscle biopsy
• next generation sequencing

Dysferlinopathy, a progressive muscular dystrophy, results from mutations in the Dysferlin gene (DYSF, MIM*603009). Traditional diagnosis relies on the reduction or absence of dysferlin. However, altered dysferlin has been observed in other myopathies, leading to a precise diagnosis through molecular genetics. In this study, we report a patient who was previously misdiagnosed as inflammatory myopathy based on routine clinicopathological examinations alone. However, muscle biopsy specimens were analyzed further by immunohistochemistry of muscular dystrophy-related proteins, and gene-targeted next generation sequencing (NGS) was used to correctly identify muscular dystrophy. DNA was sequenced with NGS and the detected mutation was verified by Sanger sequencing. Our targeted NGS found a novel missense mutation (c.5392G>A) in the DYSF gene, allowing correct diagnosis of LGMD2B in our patient. We discovered of a novel missense mutation in the DYSF gene and have broadened the DYSF mutation spectrum, which may be correlated in patients with presumed dysferlinopathy, especially when lymphocytic infiltration is observed.

• 出版日期2018-8
• 单位河北医科大学