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Raras","award":["PI20\/01419"],"award-info":[{"award-number":["PI20\/01419"]}]},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras","award":["U-712"],"award-info":[{"award-number":["U-712"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>We report a novel RPGR missense variant co-segregated with a familial X-linked retinitis pigmentosa (XLRP) case. The brothers were hemizygous for this variant, but only the proband presented with primary ciliary dyskinesia (PCD). Thus, we aimed to elucidate the role of the RPGR variant and other modifier genes in the phenotypic variability observed in the family and its impact on motile cilia. The pathogenicity of the variant on the RPGR protein was evaluated by in vitro studies transiently transfecting the mutated RPGR gene, and immunofluorescence analysis on nasal brushing samples. Whole-exome sequencing was conducted to identify potential modifier variants. In vitro studies showed that the mutated RPGR protein could not localise to the cilium and impaired cilium formation. Accordingly, RPGR was abnormally distributed in the siblings\u2019 nasal brushing samples. In addition, a missense variant in CEP290 was identified. The concurrent RPGR variant influenced ciliary mislocalisation of the protein. We provide a comprehensive characterisation of motile cilia in this XLRP family, with only the proband presenting PCD symptoms. The variant\u2019s pathogenicity was confirmed, although it alone does not explain the respiratory symptoms. Finally, the CEP290 gene may be a potential modifier for respiratory symptoms in patients with RPGR mutations.<\/jats:p>","DOI":"10.3390\/cells13060524","type":"journal-article","created":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T06:58:39Z","timestamp":1710745119000},"page":"524","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1704-3413","authenticated-orcid":false,"given":"Noelia","family":"Baz-Red\u00f3n","sequence":"first","affiliation":[{"name":"Growth and Development Research Group, Vall d\u2019Hebron Research Institute (VHIR), Hospital Universitari Vall d\u2019Hebron, 08035 Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos 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Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Rovira-Amigo","sequence":"additional","affiliation":[{"name":"Growth and Development Research Group, Vall d\u2019Hebron Research Institute (VHIR), Hospital Universitari Vall d\u2019Hebron, 08035 Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain"},{"name":"Department of Paediatrics, Vall d\u2019Hebron Hospital Universitari, Vall d\u2019Hebron Barcelona Hospital Campus, 08035 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8428-720X","authenticated-orcid":false,"given":"Thomas","family":"Burgoyne","sequence":"additional","affiliation":[{"name":"Royal Brompton Hospital, Guy\u2019s and St Thomas\u2019 NHS Foundation Trust, London SW3 6NP, UK"},{"name":"Institute of Ophthalmology, University College London, London EC1V 9EL, 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d\u2019Hebron Hospital Universitari, Vall d\u2019Hebron Barcelona Hospital Campus, 08035 Barcelona, Spain"},{"name":"Department of Paediatrics, Obstetrics, Gynecology, Preventive Medicine and Public Health, Universitat Aut\u00f2noma de Barcelona, 08193 Bellaterra, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4863-8201","authenticated-orcid":false,"given":"N\u00faria","family":"Camats-Tarruella","sequence":"additional","affiliation":[{"name":"Growth and Development Research Group, Vall d\u2019Hebron Research Institute (VHIR), Hospital Universitari Vall d\u2019Hebron, 08035 Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, 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