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Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy.

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Title: Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy.
Authors: Moye AR; Institute of Molecular and Clinical Ophthalmology Basel (IOB), 4031 Basel, Switzerland; Department of Ophthalmology, University of Basel, 4031 Basel, Switzerland., McCafferty CL; Biozentrum, University of Basel, Spitalstrasse 41, 4056 Basel, Switzerland., Lin S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9NT, UK; Manchester Centre for Genomic Medicine & Department of Ophthalmology, Saint Mary's Hospital & Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London EC1V 2PD, UK; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK., Han JH; Institute of Molecular and Clinical Ophthalmology Basel (IOB), 4031 Basel, Switzerland; Department of Ophthalmology, University of Basel, 4031 Basel, Switzerland., Dudakova L; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic., Rodenburg K; Department of Human Genetics, Radboud University Medical Center, 6525 GA, Nijmegen, the Netherlands., Szabó V; Department of Ophthalmology, Semmelweis University, 1085 Budapest, Hungary., Nagy ZZ; Department of Ophthalmology, Semmelweis University, 1085 Budapest, Hungary., Zur D; Ophthalmology Division, Tel Aviv Sourasky Medical Center, affiliated to Faculty of Medical & Health Sciences, Tel Aviv University, Tel Aviv-Yafo 6997801, Israel., Vajter M; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic., Kousal B; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic., Moulin AP; Jules-Gonin Eye Hospital, Fondation Asile des Aveugles, University of Lausanne, 1004 Lausanne, Switzerland., Graff-Meyer A; Friedrich Miescher Institute for Biomedical Research, Basel, Switzerland., Roosing S; Department of Human Genetics, Radboud University Medical Center, 6525 GA, Nijmegen, the Netherlands., Mahroo OA; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London EC1V 2PD, UK; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK., Arno G; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London EC1V 2PD, UK; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK; Division of Research, Greenwood Genetic Center, Greenwood, SC 29646, USA., Webster AR; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London EC1V 2PD, UK; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK., Ben-Yosef T; The Ruth & Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 31096, Israel., Liskova P; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic., Engel BD; Biozentrum, University of Basel, Spitalstrasse 41, 4056 Basel, Switzerland., Zobor D; Department of Ophthalmology, Semmelweis University, 1085 Budapest, Hungary., Quinodoz M; Institute of Molecular and Clinical Ophthalmology Basel (IOB), 4031 Basel, Switzerland; Department of Ophthalmology, University of Basel, 4031 Basel, Switzerland; Department of Genetics and Genome Biology, University of Leicester, Leicester LE1 7RH, UK., Rivolta C; Institute of Molecular and Clinical Ophthalmology Basel (IOB), 4031 Basel, Switzerland; Department of Ophthalmology, University of Basel, 4031 Basel, Switzerland; Department of Genetics and Genome Biology, University of Leicester, Leicester LE1 7RH, UK. Electronic address: carlo.rivolta@iob.ch.
Source: American journal of human genetics [Am J Hum Genet] 2026 Mar 05; Vol. 113 (3), pp. 582-599. Date of Electronic Publication: 2026 Feb 24.
Publication Type: Journal Article
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
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  Data: Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy.
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  Data: <searchLink fieldCode="AU" term="%22Moye+AR%22">Moye AR</searchLink>; Institute of Molecular and Clinical Ophthalmology Basel (IOB), 4031 Basel, Switzerland; Department of Ophthalmology, University of Basel, 4031 Basel, Switzerland.<br /><searchLink fieldCode="AU" term="%22McCafferty+CL%22">McCafferty CL</searchLink>; Biozentrum, University of Basel, Spitalstrasse 41, 4056 Basel, Switzerland.<br /><searchLink fieldCode="AU" term="%22Lin+S%22">Lin S</searchLink>; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9NT, UK; Manchester Centre for Genomic Medicine & Department of Ophthalmology, Saint Mary's Hospital & Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London EC1V 2PD, UK; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.<br /><searchLink fieldCode="AU" term="%22Han+JH%22">Han JH</searchLink>; Institute of Molecular and Clinical Ophthalmology Basel (IOB), 4031 Basel, Switzerland; Department of Ophthalmology, University of Basel, 4031 Basel, Switzerland.<br /><searchLink fieldCode="AU" term="%22Dudakova+L%22">Dudakova L</searchLink>; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Rodenburg+K%22">Rodenburg K</searchLink>; Department of Human Genetics, Radboud University Medical Center, 6525 GA, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Szabó+V%22">Szabó V</searchLink>; Department of Ophthalmology, Semmelweis University, 1085 Budapest, Hungary.<br /><searchLink fieldCode="AU" term="%22Nagy+ZZ%22">Nagy ZZ</searchLink>; Department of Ophthalmology, Semmelweis University, 1085 Budapest, Hungary.<br /><searchLink fieldCode="AU" term="%22Zur+D%22">Zur D</searchLink>; Ophthalmology Division, Tel Aviv Sourasky Medical Center, affiliated to Faculty of Medical & Health Sciences, Tel Aviv University, Tel Aviv-Yafo 6997801, Israel.<br /><searchLink fieldCode="AU" term="%22Vajter+M%22">Vajter M</searchLink>; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Kousal+B%22">Kousal B</searchLink>; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Moulin+AP%22">Moulin AP</searchLink>; Jules-Gonin Eye Hospital, Fondation Asile des Aveugles, University of Lausanne, 1004 Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Graff-Meyer+A%22">Graff-Meyer A</searchLink>; Friedrich Miescher Institute for Biomedical Research, Basel, Switzerland.<br /><searchLink fieldCode="AU" term="%22Roosing+S%22">Roosing S</searchLink>; Department of Human Genetics, Radboud University Medical Center, 6525 GA, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Mahroo+OA%22">Mahroo OA</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London EC1V 2PD, UK; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.<br /><searchLink fieldCode="AU" term="%22Arno+G%22">Arno G</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London EC1V 2PD, UK; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK; Division of Research, Greenwood Genetic Center, Greenwood, SC 29646, USA.<br /><searchLink fieldCode="AU" term="%22Webster+AR%22">Webster AR</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London EC1V 2PD, UK; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.<br /><searchLink fieldCode="AU" term="%22Ben-Yosef+T%22">Ben-Yosef T</searchLink>; The Ruth & Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 31096, Israel.<br /><searchLink fieldCode="AU" term="%22Liskova+P%22">Liskova P</searchLink>; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Engel+BD%22">Engel BD</searchLink>; Biozentrum, University of Basel, Spitalstrasse 41, 4056 Basel, Switzerland.<br /><searchLink fieldCode="AU" term="%22Zobor+D%22">Zobor D</searchLink>; Department of Ophthalmology, Semmelweis University, 1085 Budapest, Hungary.<br /><searchLink fieldCode="AU" term="%22Quinodoz+M%22">Quinodoz M</searchLink>; Institute of Molecular and Clinical Ophthalmology Basel (IOB), 4031 Basel, Switzerland; Department of Ophthalmology, University of Basel, 4031 Basel, Switzerland; Department of Genetics and Genome Biology, University of Leicester, Leicester LE1 7RH, UK.<br /><searchLink fieldCode="AU" term="%22Rivolta+C%22">Rivolta C</searchLink>; Institute of Molecular and Clinical Ophthalmology Basel (IOB), 4031 Basel, Switzerland; Department of Ophthalmology, University of Basel, 4031 Basel, Switzerland; Department of Genetics and Genome Biology, University of Leicester, Leicester LE1 7RH, UK. Electronic address: carlo.rivolta@iob.ch.
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  Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2026 Mar 05; Vol. 113 (3), pp. 582-599. <i>Date of Electronic Publication: </i>2026 Feb 24.
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