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A novel frameshift mutation of the endoglin(ENG) gene causes hereditary hemorrhagic telangiectasia in a Chinese family

  • Rhinology
  • Published:
European Archives of Oto-Rhino-Laryngology Aims and scope Submit manuscript

Abstract

Purpose

Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited disorder that involves epistaxis, mucocutaneous telangiectases, and visceral arteriovenous malformations (AVMs). This study aims to investigate the genetic causes in a Chinese family with HHT.

Methods

HHT was confirmed according to Curaçao’s diagnostic criteria. Three patients diagnosed with HHT and healthy members were recruited. Whole-exome sequencing (WES) and sanger sequencing were performed to define the patient’s genetically pathogenic factor.

Results

The proband presented with recurrent epistaxis, hepatopulmonary arteriovenous malformation, and adenocarcinoma. A novel frameshift mutation (c.1376_1377delAC, p.H459Lfs*41) of the ENG gene was revealed in affected individuals by WES. There was no report of this variant and predicted to be highly damaging by causing truncation of the ENG protein.

Conclusion

We report a novel variant in the ENG gene in Chinese that extends the mutational and phenotypic spectra of the ENG gene, and also demonstrates the feasibility of WES in the application of genetic diagnosis of HHT.

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Data availability

The data sets for this article are not publicly available due to concerns regarding participant/patient anonymity. Requests to access the data sets should be directed to the corresponding author.

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Funding

The study was supported by the National Natural Science Foundation of China [Grant Numbers 32200629] and Shandong Provincial Natural Science Foundation, China [Grant Numbers ZR2020QH047, ZR2021QH268].

Author information

Authors and Affiliations

  1. School of Clinical Medicine, Weifang Medical University, Weifang, China

    Peng Li

  2. Department of Laboratory Medicine, Linyi People’s Hospital, Linyi, China

    Chunhai Gao, Yuda Wei & Xiangyu Zhao

  3. Key Laboratory for Laboratory Medicine of Linyi City, Linyi People’s Hospital, Linyi, China

    Chunhai Gao, Yuda Wei & Xiangyu Zhao

  4. Department of Otorhinolaryngology, Linyi People’s Hospital, Linyi, China

    Dezhong Sun, Liqiang Lin, Yangyang Yang, Qiang Shao & Huaiqing Lv

Authors
  1. Peng Li
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  2. Chunhai Gao
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  3. Yuda Wei
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  4. Xiangyu Zhao
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  5. Dezhong Sun
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  6. Liqiang Lin
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  7. Yangyang Yang
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  8. Qiang Shao
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  9. Huaiqing Lv
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Contributions

PL and HL helped to gather all of the necessary materials and were responsible for writing the manuscript. CG, YW, and DS conducted the study and analyzed the data. XZ designed the study and revised the manuscript. LL, YY, and QS performed the research. All authors contributed to manuscript revision, read, and approved the submitted version.

Corresponding authors

Correspondence to Xiangyu Zhao or Huaiqing Lv.

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Conflict of interest

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Ethical statements

The ethics committee of the Linyi People’s Hospital approved the research protocol, and written informed consent was obtained from every participant.

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Li, P., Gao, C., Wei, Y. et al. A novel frameshift mutation of the endoglin(ENG) gene causes hereditary hemorrhagic telangiectasia in a Chinese family. Eur Arch Otorhinolaryngol 281, 237–243 (2024). https://doi.org/10.1007/s00405-023-08186-4

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  • DOI: https://doi.org/10.1007/s00405-023-08186-4

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