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INTRODUCTION AND AIMS: In 7 to 10% of ADPKD patients no mutation of the PKD1 and PKD2 genes is identified. The recent description of GANAB, encoding the α subunit of the glucosidase II, where mutations impair polycystin trafficking, indicate further genic heterogeneity in ADPKD and ADPLD. We hypothesized that, (1)-other genes processing the polycystin proteins are associated with ADPKD/ADPLD, (2)- some patients with other cystic disorders are misdiagnosed as ADPKD, and (3)- that Sanger sequencing misses some PKD1/PKD2 mutations. Our aim is to define the etiology of a cohort of 400 ADPKD-like patients without detected PKD1 or PKD2 mutations

SO029IDENTIFYING THE CULPRIT GENE IN 400 GENETICALLY UNRESOLVED AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY OR LIVER DISEASE (ADPKD/ADPLD) PEDIGREES