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We report 4 patients presenting with RP from 3 unrelated families with variants in\n                    <jats:italic>TBC1D32<\/jats:italic>\n                    , which to date has never been associated with an IRD. To validate\n                    <jats:italic>TBC1D32<\/jats:italic>\n                    as a putative RP causative gene, we combined\n                    <jats:italic>Xenopus<\/jats:italic>\n                    in vivo approaches and human induced pluripotent stem cell\u2013derived (iPSC-derived) retinal models. Our data showed that\n                    <jats:italic>TBC1D32<\/jats:italic>\n                    was expressed during retinal development and that it played an important role in retinal pigment epithelium (RPE) differentiation. Furthermore, we identified a role for TBC1D32 in ciliogenesis of the RPE. We demonstrated elongated ciliary defects that resulted in disrupted apical tight junctions, loss of functionality (delayed retinoid cycling and altered secretion balance), and the onset of an epithelial-mesenchymal transition\u2013like phenotype. Last, our results suggested photoreceptor differentiation defects, including connecting cilium anomalies, that resulted in impaired trafficking to the outer segment in cones and rods in\n                    <jats:italic>TBC1D32<\/jats:italic>\n                    iPSC-derived retinal organoids. Overall, our data highlight a critical role for TBC1D32 in the retina and demonstrate that\n                    <jats:italic>TBC1D32<\/jats:italic>\n                    mutations lead to RP. We thus identify\n                    <jats:italic>TBC1D32<\/jats:italic>\n                    as an IRD-causative gene.\n                  <\/jats:p>","DOI":"10.1172\/jci.insight.169426","type":"journal-article","created":{"date-parts":[[2023,9,28]],"date-time":"2023-09-28T12:00:31Z","timestamp":1695902431000},"source":"Crossref","is-referenced-by-count":22,"title":["TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa"],"prefix":"10.1172","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6369-4818","authenticated-orcid":true,"given":"B\u00e9atrice","family":"Bocquet","sequence":"first","affiliation":[{"name":"Institute for Neurosciences of Montpellier (INM), University of Montpellier, Inserm, Montpellier, France."},{"name":"National Reference Centre for Inherited Sensory Diseases, University of Montpellier, CHU, Montpellier, 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