MON-328 Oculocerebrorenal syndrome: novel pathogenic OCRL1 mutations and genotype-phenotype analysis

Abstract

Oculocerebrorenal syndrome of Lowe is a rare X-linked disorder characterized by congenital cataract, mental retardation and proximal tubulopathy. The mutation of OCRL1 gene localized at chromosome Xq26.1, encoding an inositol polyphosphate 5-phosphatase, is responsible for the phenotypic characteristics of this syndrome.