{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T04:24:57Z","timestamp":1787286297021,"version":"build-2736575974"},"reference-count":21,"publisher":"Springer Science and Business Media LLC","license":[{"start":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T00:00:00Z","timestamp":1787270400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T00:00:00Z","timestamp":1787270400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Graefes Arch Clin Exp Ophthalmol"],"DOI":"10.1007\/s00417-026-07469-w","type":"journal-article","created":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T04:01:19Z","timestamp":1787284879000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["CLUAP1 variants cause non-syndromic retinitis pigmentosa"],"prefix":"10.1007","author":[{"given":"Jacqueline","family":"Fr\u00f6hlich","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Testa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karolina","family":"Kaminska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianthi","family":"Karali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Zeuli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Cancellieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Roosing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathieu","family":"Quinodoz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Simonelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Rivolta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandro","family":"Banfi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giacomo","family":"Calzetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,8,21]]},"reference":[{"issue":"10","key":"7469_CR1","doi-asserted-by":"publisher","first-page":"2253","DOI":"10.1016\/j.ajhg.2025.08.017","volume":"112","author":"C Rivolta","year":"2025","unstructured":"Rivolta C, Celik E, Kamdar D et al (2025) RetiGene, a comprehensive gene atlas for inherited retinal diseases. Am J Hum Genet 112(10):2253\u20132265","journal-title":"Am J Hum Genet"},{"key":"7469_CR2","doi-asserted-by":"publisher","first-page":"103635","DOI":"10.1016\/j.semcdb.2025.103635","volume":"174","author":"L Li","year":"2025","unstructured":"Li L, Zhou J, Ran J (2025) Retinal photoreceptor cilia and ciliopathies: Molecular mechanisms and therapeutic strategies. Semin Cell Dev Biol 174:103635","journal-title":"Semin Cell Dev Biol"},{"issue":"7","key":"7469_CR3","doi-asserted-by":"publisher","first-page":"4585","DOI":"10.1167\/iovs.14-14888","volume":"55","author":"C Lee","year":"2014","unstructured":"Lee C, Wallingford JB, Gross JM (2014) Cluap1 is essential for ciliogenesis and photoreceptor maintenance in the vertebrate eye. Invest Ophthalmol Vis Sci 55(7):4585\u20134592","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"7","key":"7469_CR4","doi-asserted-by":"publisher","first-page":"773","DOI":"10.15252\/embj.201593164","volume":"35","author":"M Taschner","year":"2016","unstructured":"Taschner M, Weber K, Mour\u00e3o A et al (2016) Intraflagellar transport proteins 172, 80, 57, 54, 38, and 20 form a stable tubulin-binding IFT-B2 complex. EMBO J 35(7):773\u2013790","journal-title":"EMBO J"},{"issue":"1","key":"7469_CR5","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1016\/j.ydbio.2013.05.024","volume":"381","author":"Y Botilde","year":"2013","unstructured":"Botilde Y, Yoshiba S, Shinohara K et al (2013) Cluap1 localizes preferentially to the base and tip of cilia and is required for ciliogenesis in the mouse embryo. Dev Biol 381(1):203\u2013212","journal-title":"Dev Biol"},{"issue":"1","key":"7469_CR6","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1186\/2046-2530-1-20","volume":"1","author":"RC Pasek","year":"2012","unstructured":"Pasek RC, Berbari NF, Lewis WR, Kesterson RA, Yoder BK (2012) Mammalian Clusterin associated protein 1 is an evolutionarily conserved protein required for ciliogenesis. Cilia 1(1):20","journal-title":"Cilia"},{"issue":"10","key":"7469_CR7","doi-asserted-by":"publisher","first-page":"1044","DOI":"10.1038\/gim.2015.205","volume":"18","author":"ZT Soens","year":"2016","unstructured":"Soens ZT, Li Y, Zhao L et al (2016) Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1. Genet Med 18(10):1044\u20131051","journal-title":"Genet Med"},{"key":"7469_CR8","doi-asserted-by":"crossref","unstructured":"Mauro-Herrera M, Chiang J, Radojevic B, Bennett LD (2021) Functional evaluation of splicing for variants of uncertain significance in patients with inherited retinal diseases. Genes (Basel) 12(7):993","DOI":"10.3390\/genes12070993"},{"issue":"4","key":"7469_CR9","doi-asserted-by":"publisher","first-page":"a001321","DOI":"10.1101\/mcs.a001321","volume":"3","author":"JJ Johnston","year":"2017","unstructured":"Johnston JJ, Lee C, Wentzensen IM et al (2017) Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome. Cold Spring Harb Mol Case Stud 3(4):a001321","journal-title":"Cold Spring Harb Mol Case Stud"},{"issue":"3","key":"7469_CR10","doi-asserted-by":"publisher","first-page":"pgad043","DOI":"10.1093\/pnasnexus\/pgad043","volume":"2","author":"VG Peter","year":"2023","unstructured":"Peter VG, Kaminska K, Santos C et al (2023) The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis. PNAS Nexus 2(3):pgad043","journal-title":"PNAS Nexus"},{"issue":"3","key":"7469_CR11","first-page":"100314","volume":"5","author":"R Zeuli","year":"2024","unstructured":"Zeuli R, Karali M, de Bruijn SE et al (2024) Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients. HGG Adv 5(3):100314","journal-title":"HGG Adv"},{"issue":"1","key":"7469_CR12","doi-asserted-by":"publisher","first-page":"518","DOI":"10.1038\/s41467-020-20584-4","volume":"12","author":"M Quinodoz","year":"2021","unstructured":"Quinodoz M, Peter VG, Bedoni N et al (2021) AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data. Nat Commun 12(1):518","journal-title":"Nat Commun"},{"issue":"1","key":"7469_CR13","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1002\/humu.23348","volume":"39","author":"PJ Freeman","year":"2018","unstructured":"Freeman PJ, Hart RK, Gretton LJ, Brookes AJ, Dalgleish R, VariantValidator (2018) Accurate validation, mapping, and formatting of sequence variation descriptions. Hum Mutat 39(1):61\u201368","journal-title":"Hum Mutat"},{"issue":"6","key":"7469_CR14","doi-asserted-by":"publisher","first-page":"564","DOI":"10.1002\/humu.22981","volume":"37","author":"JT den Dunnen","year":"2016","unstructured":"den Dunnen JT, Dalgleish R, Maglott DR et al (2016) HGVS Recommendations for the Description of Sequence Variants: 2016 Update. Hum Mutat 37(6):564\u2013569","journal-title":"Hum Mutat"},{"issue":"5","key":"7469_CR15","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405\u2013424","journal-title":"Genet Med"},{"issue":"7809","key":"7469_CR16","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","volume":"581","author":"KJ Karczewski","year":"2020","unstructured":"Karczewski KJ, Francioli LC, Tiao G et al (2020) The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581(7809):434\u2013443","journal-title":"Nature"},{"issue":"3","key":"7469_CR17","doi-asserted-by":"publisher","first-page":"535","DOI":"10.1016\/j.cell.2018.12.015","volume":"176","author":"K Jaganathan","year":"2019","unstructured":"Jaganathan K, Kyriazopoulou Panagiotopoulou S, McRae JF et al (2019) Predicting Splicing from Primary Sequence with Deep Learning. Cell 176(3):535\u2013548e24","journal-title":"Cell"},{"issue":"1","key":"7469_CR18","doi-asserted-by":"publisher","first-page":"732","DOI":"10.1038\/s41597-024-03571-y","volume":"11","author":"NA O\u2019Leary","year":"2024","unstructured":"O\u2019Leary NA, Cox E, Holmes JB et al (2024) Exploring and retrieving sequence and metadata for species across the tree of life with NCBI Datasets. Sci Data 11(1):732","journal-title":"Sci Data"},{"issue":"11","key":"7469_CR19","doi-asserted-by":"publisher","first-page":"1645","DOI":"10.1038\/s41588-019-0517-5","volume":"51","author":"RGH Lindeboom","year":"2019","unstructured":"Lindeboom RGH, Vermeulen M, Lehner B, Supek F (2019) The impact of nonsense-mediated mRNA decay on genetic disease, gene editing and cancer immunotherapy. Nat Genet 51(11):1645\u20131651","journal-title":"Nat Genet"},{"issue":"21","key":"7469_CR20","doi-asserted-by":"publisher","first-page":"e169426","DOI":"10.1172\/jci.insight.169426","volume":"8","author":"B Bocquet","year":"2023","unstructured":"Bocquet B, Borday C, Erkilic N et al (2023) TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa. JCI Insight 8(21):e169426","journal-title":"JCI Insight"},{"issue":"12","key":"7469_CR21","doi-asserted-by":"publisher","first-page":"105493","DOI":"10.1016\/j.isci.2022.105493","volume":"25","author":"J Wang","year":"2022","unstructured":"Wang J, Zhu X, Wang Z, Li X, Tao H, Pan J (2022) Assembly and stability of IFT-B complex and its function in BBSome trafficking. iScience 25(12):105493","journal-title":"iScience"}],"container-title":["Graefe's Archive for Clinical and Experimental Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00417-026-07469-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00417-026-07469-w","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00417-026-07469-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T04:01:20Z","timestamp":1787284880000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00417-026-07469-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8,21]]},"references-count":21,"alternative-id":["7469"],"URL":"https:\/\/doi.org\/10.1007\/s00417-026-07469-w","relation":{},"ISSN":["0721-832X","1435-702X"],"issn-type":[{"value":"0721-832X","type":"print"},{"value":"1435-702X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8,21]]},"assertion":[{"value":"1 February 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 August 2026","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 August 2026","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 August 2026","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Informed consent was obtained from all individual participants included in the study.","order":1,"name":"Ethics","label":"Ethics approval and consent to participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}]}}