Abstract：
BACKGROUND: Becker muscular dystrophy (BMD) is a genetic and progressive neuromuscular disease caused by mutations in the dystrophin gene with no available cure. A case report and comprehensive review of BMD cases aim to provide important clues for early diagnosis and implications for clinical practice. Genes and pathways identified from microarray data of muscle samples from patients with BMD help uncover the potential mechanism and provide novel therapeutic targets for dystrophin-deficient muscular dystrophies.
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.
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.
摘要：
背景：Becker肌营养不良症（BMD）是一种由肌营养不良蛋白基因突变引起的遗传性进行性神经肌肉疾病，目前尚无治愈方法。病例报告和对BMD病例的全面回顾旨在为早期诊断提供重要线索，并对临床实践具有重要意义。从BMD患者肌肉样本的微阵列数据中鉴定的基因和通路有助于揭示潜在的机制，并为肌营养不良蛋白缺陷型肌营养不良提供新的治疗靶点。
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。
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。
