Bioinformatics analysis of a CLCN5 geneframeshift mutation in a patient with Dent disease.
10.11817/j.issn.1672-7347.2025.240467
- Author:
Yingying ZHANG
1
,
2
;
Nannan LI
1
;
Liangliang FAN
3
;
Jishi LIU
1
,
4
,
5
Author Information
1. Department of Nephropathy and Rheumatology, Third Xiangya Hospital, Central South University, Changsha
2. 228311021@csu.edu.cn.
3. School of Life Sciences, Central South University, Changsha 410013, China.
4. jishiliuxy3yy@
5. com.
- Publication Type:Case Reports
- Keywords:
CLCN5 gene;
Dent disease;
bioinformatics analysis;
frameshift mutation;
whole exome sequencing
- MeSH:
Humans;
Chloride Channels/genetics*;
Dent Disease/genetics*;
Male;
Child;
Computational Biology;
Mutation;
Proteinuria/genetics*;
Hypercalciuria/genetics*
- From:
Journal of Central South University(Medical Sciences)
2025;50(5):913-918
- CountryChina
- Language:English
-
Abstract:
Dent disease is a rare X-linked recessive inherited renal tubular disorder characterized by low molecular weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis, and other clinical features, and can lead to progressive renal failure. It is primarily caused by mutations in the CLCN5 gene. This article reports the case of a 10-year-old male patient of Chinese descent who was incidentally found to have asymptomatic proteinuria during a routine health examination. Comprehensive biochemical testing and clinical evaluation revealed significant LMWP and hypercalciuria, while renal biopsy showed mesangial cell and matrix proliferation. Whole exome sequencing identified a novel deletion mutation in the CLCN5 gene (NM_001127899.4, c.1158delC, p.F387Lfs*42) causing a frameshift and premature termination, which is likely to disrupt its role in chloride/hydrogen ion exchange and endosomal acidification. Bioinformatic analysis indicated the variant is pathogenic. Genetic testing plays an important role in diagnosing rare kidney diseases. Early identification of pathogenic mutations is essential for facilitating timely intervention and appropriate management, potentially enhancing patient outcomes. This report expands the CLCN5 mutation spectrum and contributes to understanding the genetic and molecular mechanisms of Dent disease.
