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Background  Joubert syndrome and related disorders (JSRD) and Jeune syndrome are multisystem ciliopathy disorders with overlapping phenotypes. There are a growing number of genetic causes for these rare syndromes, including the recently described genes  ARL3  and  CEP120 .    Methods  We sought to explore the developmental expression patterns of  ARL3  and  CEP120  in humans to gain additional understanding of these genetic conditions. We used an RNA in situ detection technique called RNAscope to characterise  ARL3  and  CEP120  expression patterns in human embryos and foetuses in collaboration with the MRC-Wellcome Trust Human Developmental Biology Resource.    Results  Both  ARL3  and  CEP120  are expressed in early human brain development, including the cerebellum and in the developing retina and kidney, consistent with the clinical phenotypes seen with pathogenic variants in these genes.    Conclusions  This study provides insights into the potential pathogenesis of JSRD by uncovering the spatial expression of two JSRD-causative genes during normal human development.    Supplementary Information  The online version contains supplementary material available at 10.1186/s12861-020-00231-3.

Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development