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Whole-exome sequencing detected a novel APP variant in a Han-Chinese family with Alzheimer’s disease

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Abstract

Background

Alzheimer’s disease (AD) is an incurable and debilitating neurodegenerative disease that results in the progressive degeneration and death of nerve cells. Mutations in the APP gene, which encodes an amyloid precursor protein, is the strongest genetic risk factor for sporadic AD.

Methods and Results

We studied the APP gene (NM_000484.3: c.2045A > T; p.E682V) variants carried by members of a family suffering from AD using whole-exome sequencing and Sanger sequencing.

Conclusion

In this study, we identified a new variant of the APP gene (NM_000484.3: c.2045A > T; p.E682V) in members of a family with AD. This provides potential targets for subsequent studies and information that can be used in genetic counselling.

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Acknowledgements

We thank all authors for their help in the completion of this paper and the medical staff of the department for their good service to the participants. The authors are thankful to the anonymous reviews for the constructive criticism of this article.

Funding

This study was supported by the National Natural Science Foundation of China (82000427).

Author information

Author notes

  1. Wang Chenyu and Wang Zhaoxia contributed equally to this work.

Authors and Affiliations

  1. Department of Neurology, Affiliated Hospital of Yangzhou University, Yangzhou, 225001, Jiangsu, China

    Wang Zhaoxia & Tang Tieyu

  2. Department of Cell Biology, The School of Life Sciences, Central South University, Changsha, 410013, China

    Wang Chenyu, Yuan ZhuangZhuang & Fan Liangliang

  3. Department of Neurology, Yangzhou Oriental Hospital, Yangzhou, 225001, Jiangsu, China

    Lin Xue

Authors
  1. Wang Zhaoxia
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  2. Wang Chenyu
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  3. Yuan ZhuangZhuang
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  4. Fan Liangliang
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  5. Lin Xue
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  6. Tang Tieyu
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Contributions

LX and TT enrolled the samples and clinical data. WZ isolated the gDNA and performed PCR. YZ in performed genetic analysis. WC wrote the manuscript. FL supported the study. All authors reviewed the manuscript. Each author participated sufficiently and consent to publication.

Corresponding authors

Correspondence to Lin Xue or Tang Tieyu.

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Conflict of interest

The authors have no conflicts of interest to declare.

Ethical approval

This study was approved and supervised by the ethics committee of the Yangzhou Oriental Hospital. All individuals who participated in the study were given written informed consent forms. Considering the serious symptoms of the proband, we invited the son as guardian to sign the informed consent form. We also obtained brain scans with permission to publish from the legal representative of the proband.

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Zhaoxia, W., Chenyu, W., ZhuangZhuang, Y. et al. Whole-exome sequencing detected a novel APP variant in a Han-Chinese family with Alzheimer’s disease. Mol Biol Rep 50, 5267–5271 (2023). https://doi.org/10.1007/s11033-023-08400-w

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  • DOI: https://doi.org/10.1007/s11033-023-08400-w

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