The intraflagellar transport protein IFT52 associated with short-rib thoracic dysplasia is essential for ciliary function in osteogenic differentiation in vitro and for sensory perception in Drosophila.
our data allowed to have a better comprehensive overview of the genotype/phenotype correlation associated to IFT52 mutations and shed light on a novel function of IFT52 on centriole cohesion via the regulation of microtubule anchorage and dynamics.
This report expands ocular phenotypes of IFT52 mutation-caused ciliopathy to include retinal ciliopathy and demonstrates its deleterious nature in interrupting primary ciliary function.
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