Epidemiological characteristics of patients with Hutchinson-Gilford progeria syndrome and progeroid laminopathies in China

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发表日期：

2024年1月8日

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Jingjing Wang,
Qinmei Yu,
Xiaoxiao Tang,
Leslie B. Gordon,
Junyi Chen,
Buchun Jiang,
Guoping Huang,
Haidong Fu,
Jianqin Qian,
Zhihong Liu,
Jianhua Mao

摘要

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.