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A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome

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Abstract

Background

Cockayne syndrome is an inherited heterogeneous defect in transcription-coupled DNA repair (TCR) cause severe clinical syndromes, which may affect the nervous system development of infants and even lead to premature death in some cases. ERCC8 diverse critical roles in the nucleotide excision repair (NER) complex, which is one of the disease-causing genes of Cockayne syndrome.

Methods and results

The mutation of ERCC8 in the patient was identified and validated using WES and Sanger sequencing. Specifically, a compound heterozygous mutation (c.454_460dupGTCTCCA p. T154Sfs*13 and c.755_759delGTTTT p.C252Yfs*3) of ERCC8 (CSA) was found, which could potentially be the genetic cause of Cockayne syndrome in the proband.

Conclusion

In this study, we identified a novel heterozygous mutation of ERCC8 in a Chinese family with Cockayne syndrome, which enlarging the genetic spectrum of the disease.

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Data availability

Data sharing is not applicable to this article as no new data were created or analyzed in this study.

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Acknowledgements

We thank the patients and their family members for their participation in this study and all patient advisers for their assistance in clinical examination and blood specimen collection.

Funding

This work was supported by the Clinical Medical Personnel Training Program of Hebei Provincial Health Commission (Ya-Li Li), Inner Mongolia Science and Technology Innovation Guidance Project (NM-KJCXYD-018), Innovation Foundation for Postgraduate of Central South University (1053320220863) and the Fundamental Research Funds for Central Universities of Central South University (2023ZZTS0863).

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Author notes

  1. Meng-Wei Liu and Cheng-Feng Hu contributed equally to this work.

Authors and Affiliations

  1. School of Life Sciences, Central South University, Changsha, China

    Meng-Wei Liu, Cheng-Feng Hu, Jie-Yuan Jin, Rong Xiang & Liang-liang Fan

  2. College of Basic Medical, Xinjiang Medical University, Urumqi, China

    Meng-Wei Liu

  3. Department of Reproductive Genetics, Hebei General Hospital, Shijiazhuang, China

    Ya-Li Li

  4. Department of Obstetrics and Gynecology, Ordos Central Hospital, Ordos, China

    Lei Zhu

Authors
  1. Meng-Wei Liu
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  2. Cheng-Feng Hu
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  4. Rong Xiang
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  5. Liang-liang Fan
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  6. Ya-Li Li
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Contributions

Meng-Wei Liu contributed to sequencing analysis and functional verification. Cheng-Feng Hu contributed to variant interpretation and sequencing analysis. Jie-Yuan Jin contributed to recruiting samples and collecting clinical phenotypes. Rong Xiang and Liang-liang Fan contributed to designing experiments, raising the idea of the project, and reviewing and editing the draft. Ya-Li Li and Lei Zhu contributed to supervision, project administration, and reviewing and editing the draft.

Corresponding authors

Correspondence to Ya-Li Li or Lei Zhu.

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Conflict of interest

The authors declare no conflicts of interest.

Ethical approval

This study complied with the tenets of the Declaration of Helsinki and was approved by the Ethics Committee of the Hebei General Hospital. Written informed consent was obtained from the parents.

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Liu, MW., Hu, CF., Jin, JY. et al. A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome. Mol Biol Rep 51, 371 (2024). https://doi.org/10.1007/s11033-024-09235-9

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  • DOI: https://doi.org/10.1007/s11033-024-09235-9

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