<i>OCRL1</i> Mutations in Dent 2 Patients Suggest a Mechanism for Phenotypic Variability

Abstract

OCRL1 mutations can cause the renal phenotype of Dent disease, without acidosis or the dramatic eye abnormalities typical of Lowe syndrome. We propose a model to explain the phenotypic variability between Dent 2 and Lowe's based on distinctly different classes of mutations in OCRL1 producing splice variants.