Genetic analysis of UMOD gene mutation in autosomal dominant tubulointerstitial kidney disease.
10.11817/j.issn.1672-7347.2025.240135
- Author:
Yingying ZHANG
1
,
2
;
Nannan LI
1
;
Min LU
1
;
Yumeng LEI
1
;
Kaiqian ZHANG
1
;
Jishi LIU
1
,
3
Author Information
1. Department of Nephropathy and Rheumatology, Third Xiangya Hospital, Central South University, Changsha
2. 228311021@csu.edu.cn.
3. 26545559@qq.com.
- Publication Type:Case Reports
- Keywords:
UMOD gene;
autosomal dominant tubulointerstitial kidney disease;
genetic analysis;
missense mutation;
whole-exome sequencing
- MeSH:
Adult;
Humans;
Male;
Exome Sequencing;
Mutation;
Mutation, Missense;
Nephritis, Interstitial/genetics*;
Pedigree;
Uromodulin/genetics*
- From:
Journal of Central South University(Medical Sciences)
2025;50(4):724-730
- CountryChina
- Language:English
-
Abstract:
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare autosomal dominant hereditary disorder characterized by hyperuricemia, gout, impaired urinary concentration, and progressive renal failure. It is primarily caused by mutations in uromodulin (UMOD) gene. This study reports a family with ADTKD in which whole-exome sequencing and Sanger sequencing identified a missense mutation in the UMOD gene, c.761A>C (p.H254P), present in both the proband and affected relatives. According to American College of Medical Genetics and Genomics (ACMG) guidelines, this variant is classified as likely pathogenic. The mutation results in an amino acid substitution that may impair UMOD protein folding and intracellular trafficking. UMOD gene mutations are associated with ADTKD, and genetic testing plays a vital role in the early diagnosis and treatment of this condition, highlighting its importance in the diagnosis of rare kidney diseases.
