PMID: 18184518Jan 11, 2008Paper

Molecular analysis of the CLCN5 gene in Dent's disease: first mutation identified in a patient from South America

Clinical Nephrology
Elena Ramos-TrujilloFelix Claverie-Martin

Abstract

Dent's disease is a rare renal tubular disorder characterized by low-molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets and eventual renal failure. The selective loss of low-molecular weight proteins points to a defect of the proximal tubule, where filtered proteins are normally reabsorbed by endocytosis. The disease tends to present in childhood or early adult life, and males are more severely affected than females. The disease is caused by mutations in CLCN5 or OCRL1, both on the X chromosome, which code for the chloride/proton exchange transporter ClC-5 and the phosphatidylinositol-4,5-biphosphate-5-phosphatase, respectively. Mutational analysis of CLCN5 gene from 4 unrelated patients diagnosed with Dent's disease and their relatives, 3 from Spain and 1 from Bolivia, was performed by PCR and automatic DNA sequencing. In the current study, we report the identification of 4 mutations in CLCN5 of 1 family from Bolivia and 3 families from Spain. Two of the mutations are novel and consist of 1 nonsense mutation, Y502X, and 1 missense mutation, L225P, affecting ClC-5alpha-helix F, one of the helices involved in formation of the chloride selectivity filter. Our results add to the expanding spec...Continue Reading

Citations

Oct 12, 2010·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Félix Claverie-MartínVíctor García-Nieto
Dec 3, 2014·Cell Calcium·Michael Pusch, Giovanni Zifarelli
Oct 21, 2016·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Youri van BerkelArend Bökenkamp

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