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A novel CLCN5 frame shift mutation responsible for Dent disease 1: Case report
Jiajia Ni1, Yaju Zhu1, Fujun Lin2
1Department of Pediatric Nephrology, Rheumatology and Immunology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.
Frontiers in Pediatrics
|December 1, 2022
Summary
A novel frameshift mutation in the CLCN5 gene causes Dent disease 1. This finding expands the known genetic causes of this inherited kidney disorder.
Area of Science:
- Genetics
- Nephrology
- Molecular Biology
Background:
- Dent disease is an inherited X-linked renal tubular disorder.
- Characterized by low molecular weight proteinuria (LMWP), nephrocalcinosis, hypercalciuria, and renal failure.
Observation:
- Two young males presented with massive proteinuria.
- They exhibited LMWP and hypercalciuria but lacked nephrocalcinosis and other tubular dysfunction signs.
- Normal growth, renal function, and bone mineral density were noted.
Findings:
- A novel deletion (c.1448delG) in the CLCN5 gene was identified, causing a frameshift mutation (p.Gly483fs).
- This mutation leads to Dent disease 1, broadening the spectrum of CLCN5 gene mutations.
Implications:
- Identifies a new genetic cause for Dent disease.
- Highlights the importance of CLCN5 gene analysis in diagnosing renal tubular disorders.
- Contributes to understanding the genetic basis of inherited kidney diseases.
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