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  • Clinical Research Article
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Epidemiological characteristics of patients with Hutchinson-Gilford progeria syndrome and progeroid laminopathies in China

Pediatric Research volume 95, pages 1356–1362 (2024)Cite this article

Abstract

Background

Hutchinson-Gilford progeria syndrome (HGPS) and progeroid laminopathies (PL) are extremely rare genetic diseases with extremely poor prognoses. This study aims to investigate the epidemiological and genotypic characteristics of patients with HGPS/PL in China.

Methods

Using a cross-sectional study design, general characteristics and genotypic data of 46 patients with HGPS/PL from 17 provinces in China were analyzed.

Results

Among the 46 patients with HGPS/PL, 20 patients are HGPS, and the rest are PL; the identified total prevalence of HGPS/PL is 1/23 million. Among 42 patients with gene reports, 3 carried compound heterozygous mutations in the ZMPSTE24 while the other 39 carried LMNA mutations. Among PL, LMNA c.1579 C > T homozygous mutation was the most common. The onset of classic genotype HGPS is skin sclerosis in the first month after birth. The primary clinical manifestations of PL patients include skin abnormalities, growth retardation, and joint stiffness. The median age of onset for PL was 12 (6,12) months.

Conclusions

In China, the identified total prevalence of HGPS/PL is 1/23 million. 92.8% of the genetic mutations of HGPS/PL were located in LMNA, and the rest in ZMPSTE24. Most patients of HGPS/PL have skin abnormalities as the earliest manifestation. Compared to PL, the classic genotype HGPS starts earlier.

Impact statement

  • Hutchinson-Gilford progeria syndrome (HGPS) and progeroid laminopathies (PL) are extremely rare genetic diseases with extremely poor prognoses. To date, there is a paucity of epidemiological data related to HGPS/PL in China.

  • This study first examined the genotypic, phenotypic, and prevalence characteristics of 40–50% of the cases of HGPS/PL in mainland China through a collaborative international registry effort.

  • In China, the identified total prevalence of HGPS/PL is 1/23 million. 92.8% of the genetic mutations of HGPS/PL are located in LMNA.

  • LMNA c.1579 C > T homozygous mutations are the most common form of gene mutations among the Chinese PL population.

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Fig. 1: Regional distribution characteristics of patients with HGPS and PL in mainland China.
Fig. 2: Phenotypes relevant to diagnosis of HGPS or PL.

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Data availability

The data analyzed during the current study are available from the corresponding author upon reasonable request.

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Acknowledgements

We thank the patients and their families for their participation, and we are particularly grateful to the CORD organization, the Zhejiang Sunflower Foundation, and the Zhejiang Women and Children’s Foundation for their support. This study has been supported by the Lingyan Program of the Zhejiang Provincial Department of Science and Technology, 2023C03027.

Author information

Authors and Affiliations

  1. Department of Nephrology, Children’s Hospital of Zhejiang University School of Medicine, National Clinical Research Center of Child Health, Hangzhou, China

    Jingjing Wang, Qinmei Yu, Xiaoxiao Tang, Junyi Chen, Buchun Jiang, Guoping Huang, Haidong Fu & Jianhua Mao

  2. Department of Anesthesia, Boston Children’s Hospital and Harvard Medical School, Boston, MA, USA

    Leslie B. Gordon

  3. Department of Pediatrics, Hasbro Children’s Hospital and Warren Alpert Medical School of Brown University, Providence, RI, USA

    Leslie B. Gordon

  4. Progeria Research Foundation, Peabody, MA, USA

    Leslie B. Gordon

  5. Clinical trial institute, Children’s Hospital of Zhejiang University School of Medicine, National Clinical Research Center of Child Health, Hangzhou, China

    Jianqin Qian

  6. Liangzhu Laboratory, Zhejiang University Medical Center, Hangzhou, China

    Zhihong Liu

  7. National Clinical Research Center of Kidney Diseases, Jinling Clinical Medical College of Nanjing Medical University, Nanjing, China

    Zhihong Liu

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Contributions

J.W. conceptualized and designed the study, drafted the initial manuscript, and revised the manuscript. Q.Y., X.T. designed the data collection instruments, collected data, and carried out the initial analyses. L.B.G. critically reviewed and revised the manuscript. J.C., B.J., G.H., H.F., and J.Q. collected data, carried out the initial analyses, and analyzed imaging data. Z.L. critically reviewed and revised the manuscript for important intellectual content. M.J. conceptualized and designed the study, coordinated and supervised data collection, and critically reviewed and revised the manuscript for important intellectual content. All authors approved the final manuscript as submitted and agreed to be accountable for all aspects of the work.

Corresponding author

Correspondence to Jianhua Mao.

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Competing interests

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.

Ethics approval and consent to participate

This study has been approved by the Medical Ethics Committee of Children’s Hospital, Zhejiang University School of Medicine (Approval No.: 2021-IRBAL-108) and performed in accordance with the Declaration of Helsinki. Informed consent was obtained from each participating individual’s guardian.

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Wang, J., Yu, Q., Tang, X. et al. Epidemiological characteristics of patients with Hutchinson-Gilford progeria syndrome and progeroid laminopathies in China. Pediatr Res 95, 1356–1362 (2024). https://doi.org/10.1038/s41390-023-02981-9

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  • DOI: https://doi.org/10.1038/s41390-023-02981-9

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