Becker muscular dystrophy: case report, review of the literature, and analysis of differentially expressed hub genes

• Published in: Neurological sciences 2022, Vol.43 (1), p.243-253
• Main Authors: Li, Min, Han, Yongli, Wang, Shuying, Yu, Yajie, Liu, Mengling, Xia, Yingfeng, Weng, Ze’an, Zhou, Ling, He, Xiaoyan, Wang, Jun, He, Zhi, Yu, Liang, Zha, Yunhong
• Format: Article
• Language: English
• Subjects: Becker's muscular dystrophy; Case reports; Child; Clinical medicine; DNA microarrays; Duchenne's muscular dystrophy; Dystrophin; Extracellular matrix; Family; Gene Expression; Humans; Literature reviews; Male; Medicine; Medicine & Public Health; Muscular dystrophy; Muscular Dystrophy, Duchenne - genetics; Mutation; Neurology; Neuromuscular diseases; Neuroradiology; Neurosciences; Neurosurgery; Psychiatry; Review Article; Systematic review; Therapeutic applications; Therapeutic targets
• ISSN: 1590-1874; 1590-3478
• DOI: 10.1007/s10072-021-05499-2

Introduction 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). Discussion This study provides important implications for clinical practice, uncovering the potential mechanism of the progress of BMD/DMD, and provided new therapeutic targets.