METHODS: We describe a BMD family with a 10-year-old boy as the proband and reviewed BMD cases from PubMed. Datasets from the Gene Expression Omnibus database were downloaded and integrated with the online software.
RESULTS: The systematic review revealed the clinical manifestations and mutation points of the dystrophin gene. Gene ontology analysis showed that extracellular matrix organization and extracellular structure organization with enrichment of upregulated genes coexist in three datasets. We present the first report of TUBA1A involvement in the development of BMD/Duchenne muscular dystrophy (DMD).
CONCLUSIONS: This study provides important implications for clinical practice, uncovering the potential mechanism of the progress of BMD/DMD, and provided new therapeutic targets.
方法:我们描述了一个以10岁男孩为先证者的BMD家庭,并回顾了PubMed的BMD病例。下载来自基因表达综合数据库的数据集并与在线软件整合。
结果:系统评价揭示了肌营养不良蛋白基因的临床表现和突变点。基因本体论分析表明,在三个数据集中,细胞外基质组织和细胞外结构组织与上调基因的富集共存。我们介绍了TUBA1A参与BMD/Duchenne肌营养不良(DMD)发展的第一份报告。
结论:这项研究为临床实践提供了重要的启示,揭示BMD/DMD进展的潜在机制,并提供了新的治疗靶点。