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Genetic screening of Chinese patients with hydatidiform mole by whole-exome sequencing and comprehensive analysis

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

We aim to explore if there are any other candidate genetic variants in patients with a history of at least one hydatidiform mole (HM) besides the well-known variants in NLRP7 and KHDC3L.

Methods

The diagnosis of HM type was based on histopathology, and available HM tissues were collected for short tandem repeat (STR) genotyping to verify the diagnosis. DNA extracted from blood samples or decidual tissues of the 78 patients was subjected to whole-exome sequencing (WES).

Results

We identified five novel variants in NLRP7, two novel variants in KHDC3L, and a chromosome abnormality covering the KHDC3L locus among patients with HM. We found that patients with HM who carried heterozygous variants in KHDC3L had a chance of normal pregnancy. We also detected four novel genetic variants in candidate genes that may be associated with HM.

Conclusion

Our study enriched the spectrum of variants in NLRP7 and KHDC3L in Chinese HM patients and provided a new outlook on the effects of heterozygous variants in KHDC3L. The novel candidate genetic variants associated with HMs reported in this study will also contribute to further research on HMs.

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Acknowledgements

We thank all the patients who participated in this study and the clinicians and embryologists of the Center for Reproductive Medicine, Peking University Third Hospital for supporting.

Funding

This work was supported by the National Natural Science Foundation of China (81971440, 81671458), the National Key Research and Development Program of China (2018YFC1002302), and the Leading Academic Discipline Project of Beijing Education Bureau (BMU20110254).

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Authors and Affiliations

  1. Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, 100191, China

    Jingyi Yang, Liying Yan, Rong Li, Ping Liu, Jie Qiao & Xu Zhi

  2. Department of Pathology, School of Basic Medical Sciences, Third Hospital, Peking University Health Science Center, Beijing, 100191, China

    Yan Liu

  3. Department of Pathology, Peking University Third Hospital, No. 38, Xueyuan Road, Haidian District, Beijing, 100191, China

    Yan Liu

  4. National Clinical Research Center for Obstetrics and Gynecology, Peking University Third Hospital, No. 49, North Garden Road, Haidian District, Beijing, 100191, China

    Jingyi Yang, Liying Yan, Rong Li, Ping Liu, Jie Qiao & Xu Zhi

  5. Key Laboratory of Assisted Reproduction (Peking University), Ministry of Education, Beijing, China

    Jingyi Yang, Liying Yan, Rong Li, Ping Liu, Jie Qiao & Xu Zhi

  6. Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Peking University Third Hospital, Beijing, China

    Jingyi Yang, Liying Yan, Rong Li, Ping Liu, Jie Qiao & Xu Zhi

Authors
  1. Jingyi Yang
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  2. Liying Yan
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  3. Rong Li
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  4. Ping Liu
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  6. Yan Liu
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  7. Xu Zhi
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Corresponding authors

Correspondence to Yan Liu or Xu Zhi.

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Supplementary Information

Below is the link to the electronic supplementary material.

10815_2022_2592_MOESM1_ESM.xlsx

Supplementary file1 The fertility histories of the 78 unrelatedpatients in our study with at least one HM. (DOCX 31.1 KB)

Supplementary file2 The 43 differential gene variants betweenpatients with HM and controls. (DOCX 47.1 KB)

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Yang, J., Yan, L., Li, R. et al. Genetic screening of Chinese patients with hydatidiform mole by whole-exome sequencing and comprehensive analysis. J Assist Reprod Genet 39, 2403–2411 (2022). https://doi.org/10.1007/s10815-022-02592-z

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  • DOI: https://doi.org/10.1007/s10815-022-02592-z

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