{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Mutations in the ciliary gene‐known as C8ORF37 (commonly referred to in some contexts as CFAP418) have been repeatedly shown to impair retinal and other ciliary functions. In multiple studies, loss‐of‐function or missense mutations in this gene cause a spectrum of predominantly retinal dystrophies – including cone–rod dystrophy, retinitis pigmentosa, and features of Bardet–Biedl syndrome – that are frequently accompanied by other ciliopathy signs such as polydactyly. Functional investigations in vertebrate models have demonstrated that knockdown or over‐expression of mutant C8ORF37 leads to abnormal formation and function of primary cilia and photoreceptor connecting cilia, with resultant delays in retrograde transport and impaired visual behavior. Immunolocalization studies further reveal that the protein product of C8ORF37 localizes to the ciliary base of retinal pigment epithelial cells and photoreceptors, consistent with a critical role in maintaining ciliary structure and supporting photoreceptor outer segment integrity. Collectively, these findings indicate that C8ORF37 (CFAP418) is essential for normal ciliary dynamics in the retina, and its disruption interferes with proper photoreceptor function and survival."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "7"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Elise Heon, Gunhee Kim, Sophie Qin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddw096"}], "href": "https://doi.org/10.1093/hmg/ddw096"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27008867"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27008867"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Alejandro Estrada-Cuzcano, Kornelia Neveling, Susanne Kohl, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2011.11.015"}], "href": "https://doi.org/10.1016/j.ajhg.2011.11.015"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22177090"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22177090"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Arif O Khan, Eva Decker, Nadine Bachmann, et al. "}, {"type": "b", "children": [{"type": "t", "text": "C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ophthalmic Genet (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3109/13816810.2015.1066830"}], "href": "https://doi.org/10.3109/13816810.2015.1066830"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26854863"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26854863"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Ramon A C van Huet, Alejandro Estrada-Cuzcano, Eyal Banin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Invest Ophthalmol Vis Sci (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1167/iovs.12-11439"}], "href": "https://doi.org/10.1167/iovs.12-11439"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23788369"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23788369"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Satoshi Katagiri, Takaaki Hayashi, Kazutoshi Yoshitake, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ophthalmic Genet (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3109/13816810.2014.949380"}], "href": "https://doi.org/10.3109/13816810.2014.949380"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25113443"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25113443"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Zeinab Ravesh, Mohammed E El Asrag, Nicole Weisschuh, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Vis (2015)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25802487"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25802487"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Nils Rahner, Gudrun Nuernberg, David Finis, et al. 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