Article
Dent Disease with mutations in OCRL1.
American journal of human genetics - 1 Feb 2005
Hoopes Richard R, Shrimpton Antony E, Knohl Stephen J, Hueber Paul, Hoppe Bernd, Matyus Janos, Simckes Ari, Tasic Velibor, Toenshoff Burkhard, Suchy Sharon F, Nussbaum Robert L, Scheinman Steven J
Abstract excerpt
Dent disease is an X-linked renal proximal tubulopathy associated with mutations in the chloride channel gene CLCN5. Lowe syndrome, a multisystem disease characterized by renal tubulopathy, congenital cataracts, and mental retardation, is associated with mutations in the gene OCRL1, which encodes a phosphatidylinositol 4,5-bisphosphate (PIP(2)) 5-phosphatase. Genetic heterogeneity has been suspected in Dent...
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