Truncating Mutations in the Chloride/Proton ClC-5 Antiporter Gene in Seven Jewish Israeli Families with Dent’s 1 Disease
| Autor: | Dganit Dinour, Danny Lotan, Aaron Knecht, Roxana Cleper, Miriam Davidovitz, Eli J. Holtzman, Irith Weissman, Nomy Levin-Iaina |
|---|---|
| Rok vydání: | 2009 |
| Předmět: |
medicine.medical_specialty
Proteinuria Dent's disease urogenital system business.industry Rickets Dent Disease General Medicine urologic and male genital diseases medicine.disease female genital diseases and pregnancy complications Endocrinology Renal tubular dysfunction Nephrology Internal medicine medicine Hypercalciuria Nephrocalcinosis medicine.symptom business Kidney disease |
| Zdroj: | Nephron Clinical Practice. 112:c262-c267 |
| ISSN: | 1660-2110 |
| DOI: | 10.1159/000224793 |
| Popis: | Dent’s disease is an X-linked hereditary renal tubular disorder characterized by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets and progressive renal failure. About 60% of patients have mutations in the CLCN5 gene (Dent 1), which encodes a kidney-specific chloride/proton antiporter, and 15% of patients have mutations in the OCRL1 gene (Dent 2). The aim of the study was to identify CLCN5 mutations in Jewish Israeli families with Dent‘s disease and to characterize the associated clinical syndromes. We studied 17 patients from 14 unrelated Israeli families with a clinical diagnosis of Dent’s disease. LMWP was detected in all patients. Most of the affected individuals had hypercalciuria and nephrocalcinosis. Renal stones were found in 1 patient, and renal insufficiency developed in 2 patients. We identified six different truncating CLCN5 mutations that were segregated with the disease in 7 families: three nonsense mutations (Arg28stop, Arg467stop and Arg637stop), one deletion mutation (505delA) and two novel mutations, consisted of one deletion mutation (1493delG) and one insertion mutation (409insC). All the mutations cause premature termination of protein translation and result in a non-functional truncated protein. The clinical characteristics of patients with different mutations were, in general, similar. |
| Databáze: | OpenAIRE |
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