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Vol. 112, No. 4, 2009
Issue release date: August 2009
Section title: Original Paper
Nephron Clin Pract 2009;112:c262–c267
(DOI:10.1159/000224793)

Truncating Mutations in the Chloride/Proton ClC-5 Antiporter Gene in Seven Jewish Israeli Families with Dent’s 1 Disease

Dinour D.a · Davidovitz M.b · Levin-Iaina N.a · Lotan D.d · Cleper R.b · Weissman I.c · Knecht A.a · Holtzman E.J.a
aDepartment of Nephrology and Hypertension, The Chaim Sheba Medical Center, Tel-Hashomer, bDepartment of Pediatric Nephrology, Schnieder Medical Center,Petach-Tikva, cDepartment of Pediatric Nephrology, Naharia, and dDepartment of Pediatric Nephrology, The Chaim Sheba Medical Center, Tel-Hashomer, Israel

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: 7/1/2008
Accepted: 12/4/2008
Published online: 6/16/2009
Issue release date: August 2009

Number of Print Pages: 1
Number of Figures: 2
Number of Tables: 2

ISSN: (Print)
eISSN: 1660-2110 (Online)

For additional information: http://www.karger.com/NEC

Abstract

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.

© 2009 S. Karger AG, Basel


  

Author Contacts

Dganit Dinour, MD
Department of Nephrology and Hypertension
The Chaim Sheba Medical Center, Tel-Hashomer 52621 (Israel)
Tel. +972 3 530 2581, Fax +972 3 530 2582
E-Mail Dganit.Dinour@sheba.health.gov.il

  

Article Information

Received: July 1, 2008
Accepted: December 4, 2008
Published online: June 16, 2009
Number of Print Pages : 6
Number of Figures : 2, Number of Tables : 2, Number of References : 23

  

Publication Details

Nephron Clinical Practice

Vol. 112, No. 4, Year 2009 (Cover Date: August 2009)

Journal Editor: El Nahas M. (Sheffield)
ISSN: 1660-2110 (Print), eISSN: 1660-2110 (Online)

For additional information: http://www.karger.com/NEC


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: 7/1/2008
Accepted: 12/4/2008
Published online: 6/16/2009
Issue release date: August 2009

Number of Print Pages: 1
Number of Figures: 2
Number of Tables: 2

ISSN: (Print)
eISSN: 1660-2110 (Online)

For additional information: http://www.karger.com/NEC


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