| 摘要: |
| 脊髓性肌萎缩症（SMA）是常见的神经肌肉系统常染色体隐性遗传病，SMN1基因为其致病基因。目前多项研究表明该病为多系统受累疾病，除了神经肌肉系统外，还包括心血管系统、消化系统、代谢系统、泌尿生殖系统等。患者临床表现多样、致病突变相同表明其存在遗传及环境修饰因子等因素影响，比如：SMN2拷贝数、NAIP拷贝数、H4F5拷贝数、ZRP1蛋白及PLS蛋白过度表达、NCALD蛋白表达下调均能修饰表型。可为遗传咨询和预后评估提供参考，可以作为新的治疗靶点。本文将对该病多系统受累情况及修饰基因研究进展进行综述，以提高临床医师的认识。 |
| 关键词: 脊髓性肌萎缩症 表型 修饰基因 综述 |
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| Progress in the phenotype and gene modifiers of spinal muscular atrophy |
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Wu
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chongqing medical university
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| Abstract: |
| Spinal muscular atrophy ( SMA) is a common autosomal recessive hereditary disease caused by mutation of the survival motor function 1 (SMN1) gene. Growing evidence demonstrates that SMA is a multi-system disorder including the cardiovascular, alimentary system, metabolic system and urogenital system besides neuromuscular system. There are different clinical manifestations in patients with the same pathogenic mutation, showing the existence of genetic and environmental factors, such as SMN2 copies, NAIP copies, H4F5 copies, the overexpression of the ZRP1 and PLS protein, the down-regulation of NCALD. It provides references for genetic counseling and prognosis assessment, and can be used as new therapeutic targets. This article reviews multi-system injury and gene modifiers, in order to raise awareness of SMA. |
| Key words: Spinal muscular atrophy, Phenotype, Gene modifiers, Review |
