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