Five novel ZNF469 gene mutations in sporadic keratoconus patients in the Han Chinese population.
10.11817/j.issn.1672-7347.2025.240114
- Author:
Yanna CAO
1
,
2
,
3
;
Zhihong DENG
1
;
Guiyun HE
4
;
Li XIAO
1
;
Feng ZHANG
1
,
5
;
Feng SU
6
Author Information
1. Department of Ophthalmology, Third Xiangya Hospital, Central South University, Changsha
2. cnn117@
3. com.
4. Department of Ophthalmology, First Affiliated Hospital of Hunan Normal University, Hunan Provincial People's Hospital, Changsha
5. fengz2022@csu.edu.cn.
6. Department of Emergency, Xiangya Hospital, Central South University, Changsha 410013, China. sufeng@csu.edu.cn.
- Publication Type:Journal Article
- Keywords:
Han Chinese population;
Sanger sequencing;
ZNF469 gene;
keratoconus;
mutation
- MeSH:
Adolescent;
Adult;
Female;
Humans;
Male;
Case-Control Studies;
China/ethnology*;
Exome Sequencing;
Genetic Predisposition to Disease;
Keratoconus/genetics*;
Mutation;
Mutation, Missense;
Transcription Factors/genetics*;
East Asian People/genetics*
- From:
Journal of Central South University(Medical Sciences)
2025;50(6):931-939
- CountryChina
- Language:English
-
Abstract:
OBJECTIVES:Keratoconus (KC) is a progressive corneal ectasia disorder, arising from a myriad of causes including genetic predispositions, environmental factors, biomechanical influences, and inflammatory reactions. This study aims to identify potential pathogenetic gene mutations in patients with sporadic KC in the Han Chinese population.
METHODS:Twenty-five patients with primary KC as well as 50 unrelated population-matched healthy controls, were included in this study to identify potential pathogenic gene mutations among sporadic KC patients in the Han Chinese population. Sanger sequencing and whole-exome sequencing (WES) were used to analyze mutations in the zinc finger protein 469 (ZNF469) gene. Bioinformatics analysis was conducted to explore the potential role of ZNF469 in KC pathogenesis.
RESULTS:Five novel heterozygous missense variants were identified in KC patients. Among them, 2 compound heterozygous variants, c.8986G>C (p. E2996Q) with c.11765A>C (p. D3922A), and c.4423C>G (p. L1475V) with c.10633G>A (p. G3545R), were determined to be possible pathogenic factors for KC.
CONCLUSIONS:Mutations in the ZNF469 gene may contribute to the development of KC in the Han Chinese population. These mutation sites may provide valuable information for future genetic screening of KC patients and their families.
