SAT-449 PSEUDOURIDYLATION DEFECT DUE TO DKC1 AND NOP10 MUTATIONS CAUSE NEPHROTIC SYNDROME, CATARACT, DEAFNESS AND ENTEROCOLITIS

Hereditary podocytopathies are genetically highly heterogeneous. Extra-renal symptoms, when associated, are specific for the causal gene. Two unrelated pedigrees presented with a novel infantile-onset severe disorder characterized by steroid-resistant nephrotic syndrome (SRNS), cataracts, sensorineural deafness and enterocolitis. In the first four-generation pedigree (FamA), the disorder segregated in an X-linked pattern and in an autosomal recessive mode in the second (FamB). Since the disorder did not correspond to any of the known podocytopathies, we aimed to identify the causal genes.