Expression Patterns of Ciliopathy Genes ARL3 and CEP120 Reveal Roles in Multisystem Development

Abstract

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. 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. This study provides insights into the potential pathogenesis of JSRD by uncovering the spatial expression of two JSRD-causative genes during normal human development.

Fetal ciliopathies: a retrospective observational single-center study

“…4), which is caused by thickened superior cerebellar peduncles, cerebellar vermis hypoplasia, and a deepened interpeduncular fossa. Molar tooth sign, however, is not specific for Joubert syndrome and can be found in other (partially Joubert-related) ciliopathies as well [28][29][30]. According to the organ system mainly affected, subdivision of JS into six phenotypic subgroups has been proposed [31]: pure JS, JS with ocular defect, JS with renal defect, JS with oculorenal defects, JS with hepatic defect and JS with orofaciodigital defects.…”