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

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Abstract

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.

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Acknowledgements

We thank the patients for their cooperation. We wish to thank Dr. Xiaoqin Hu, MD, Ph.D., who helped contact the patients.

We are grateful to Professor Cheng Zhang at the Department of Neurology, Affiliated Hospital for Sun-Yat-sen University, China, for the thoughtful discussion and clinical evaluation of patients.

Funding

This work was supported by the National Natural Science Foundation of China grants (No.81550031 and No.81201981), Hubei Provincial Health and Family Planning Commission Key Support Project (No. WJ2017Z025), Hubei Provincial Natural Science Foundation Surface project grant (No.2015CFB197), and Talents Innovation, Entrepreneurship, and Excellence-creating Project grant of Yichang City, Hubei Province.

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  1. Min Li, Yongli Han and Shuying Wang are contributed equally to this work

Authors and Affiliations

  1. Institute of Neural Regeneration and Repair, Department of Neurology, The First People’s Hospital of Yichang, China Three Gorges University, Yichang, 443000, China

    Min Li, Yongli Han, Shuying Wang, Yajie Yu, Mengling Liu, Yingfeng Xia, Ze’an Weng, Ling Zhou, Xiaoyan He, Jun Wang & Yunhong Zha

  2. Medical School of China Three Gorges University, Yichang, 443002, China

    Zhi He

  3. School of Computer Science and Technology, Xidian University, Xi’an, China

    Liang Yu

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  1. Min Li
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Li, M., Han, Y., Wang, S. et al. Becker muscular dystrophy: case report, review of the literature, and analysis of differentially expressed hub genes. Neurol Sci 43, 243–253 (2022). https://doi.org/10.1007/s10072-021-05499-2

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