Nephronophthisis-related ciliopathies (NPHP-RC)

33Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited genetic disorders 34 that share a defect in the formation, maintenance or functioning of the primary cilium 35 complex, causing progressive kidney failure and other clinical manifestations. Mutations in 36 centrosomal protein 164 kDa (CEP164), also known as NPHP15, have been identified as a 37 cause of NPHP-RC. Here we have utilised the MRC-Wellcome Trust Human Developmental 38 Biology Resource (HDBR) to perform immunohistochemistry studies on human embryonic 39 and foetal tissues to determine the expression patterns of CEP164 during development. 40 Notably expression is widespread, yet defined, in multiple organs including the kidney, retina 41 and cerebellum. Murine studies demonstrated an almost identical Cep164 expression pattern. 42Taken together, this data supports conserved roles for CEP164 throughout the development 43 of numerous organs, which we suggest accounts for the multi-system disease phenotype of 44 CEP164 mediated NPHP-RC. 45 46