Article
Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations.
Pediatric nephrology (Berlin, Germany) - 1 Oct 2009
Tosetto Enrica, Addis Maria, Caridi Gianluca, Meloni Cristiana, Emma Francesco, Vergine Gianluca, Stringini Gilda, Papalia Teresa, Barbano Giancarlo, Ghiggeri Gian Marco, Ruggeri Laura, Miglietti Nunzia, D Angelo Angela, Melis Maria Antonietta, Anglani Franca
Abstract excerpt
Dent's disease is an X-linked renal tubulopathy caused by mutations mainly affecting the CLCN5 gene. Defects in the OCRL1 gene, which is usually mutated in patients with Lowe syndrome, have recently been shown to lead to a Dent-like phenotype, called Dent's disease 2. About 25% of Dent's disease patients do not carry CLCN5/OCRL1 mutations. The CLCN4 and SLC9A6 genes have been investigated, but no mutations have...
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