先天性无虹膜1家系临床特征及基因检测分析

李伟候; 刘丹宁

doi:10.16016/j.2097-0927.202308087

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先天性无虹膜1家系临床特征及基因检测分析

临床医学 | 更新时间：2026-01-09

- 先天性无虹膜1家系临床特征及基因检测分析
- Clinical features and gene detection analysis in a family with congenital aniridia
- 陆军军医大学学报 2024年46卷第11期页码：1277-1283
- 作者机构：
  
  400010 重庆，重庆医科大学附属第二医院眼科
- 作者简介：
  
  [ 刘丹宁，E-mail：302110@hospital.cqmu.edu.cn LIU Danning, E-mail: 302110@hospital.cqmu.edu.cn
- 基金信息：
- DOI：10.16016/j.2097-0927.202308087
  中图分类号： R394.2;R771.1;R773.1
- 收稿：2023-08-23，
  
  修回：2023-11-08，
  
  纸质出版：2024-06-15
- 稿件说明：
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李伟候, 刘丹宁. 先天性无虹膜1家系临床特征及基因检测分析[J]. 陆军军医大学学报, 2024,46(11):1277-1283.

Weihou LI, Danning LIU. Clinical features and gene detection analysis in a family with congenital aniridia[J]. Journal of Army Medical University, 2024, 46(11): 1277-1283.
李伟候, 刘丹宁. 先天性无虹膜1家系临床特征及基因检测分析[J]. 陆军军医大学学报, 2024,46(11):1277-1283. DOI： 10.16016/j.2097-0927.202308087.

Weihou LI, Danning LIU. Clinical features and gene detection analysis in a family with congenital aniridia[J]. Journal of Army Medical University, 2024, 46(11): 1277-1283. DOI： 10.16016/j.2097-0927.202308087.

摘要

目的

分析先天性无虹膜1家系遗传学特点，了解

PAX

6基因突变特点及临床表型的差异。

方法

收集该家系的病史及临床资料，进行全外显子基因测序检查及数据分析，应用同源建模服务器SWISS-MODEL构建对应的蛋白质模型进行分析。

结果

本家系中4名发病者均因虹膜缺失存在畏光、睁眼困难症状，相同临床表型为无虹膜、白内障、黄斑中心凹发育不良，还存在个体差异表型。基因检测结果显示：4名发病者均为

PAX

6基因上c.442_452del: p.M148Afs*48的杂合缺失移码变异，该变异在物种间高度保守。同源建模结果提示突变的

PAX

6基因最终导致蛋白质构象发生差异变化。

结论

新发现的

PAX

6基因变异在发病的家系成员中表型不完全相同，通过同源建模分析增加了对

PAX

6异常表达导致蛋白质结构异常的认识，遗传学检查可对该家系提供遗传学证据。

Abstract

Objective

To analyze the genetic features of congenital aniridia in a family and to explore the characteristics of PAX6 gene mutations and differences in clinical phenotypes.

Methods

The medical history and clinical data of this family line were collected. Whole-exon gene sequencing and data analysis were performed

and homology modelling server SWISS-MODEL was applied to construct the corresponding protein model for analysis.

Results

All 4 individuals with onset in this family line had photophobia and difficulty in opening the eyes due to iris deficiency

with the same clinical phenotypes of aniridia

cataracts

and macular centro-concave dysplasia. But

there were still individual differences in phenotypes. Genetic examination showed that all 4 affected individuals were heterozygous for a heterozygous deletion shifted variant c.442_452del: p.M148Afs*48 on the PAX6 gene

which is highly conserved among species. Homozygous modeling suggested that the mutated PAX6 gene ultimately led to differential changes in protein conformation.

Conclusion

The newly identified PAX6 gene variant is not phenotypically identical among members of the family with congenital aniridia

and homology modeling analysis has increased the understanding that aberrant expression of PAX6 leads to structural abnormalities in the protein. Genetic examination may provide genetic evidence for this family line.

关键词

Keywords

references

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丛日昌, 宋书娟, 刘英芝. 先天性无虹膜症家系的基因突变位点研究[J]. 中华眼科杂志, 2006, 42(12): 1113-1117. DOI: 10.3760/j:issn:0412-4081.2006.12.012.

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