{"id":362821,"date":"2026-01-10T13:31:14","date_gmt":"2026-01-10T13:31:14","guid":{"rendered":"https:\/\/www.newsbeep.com\/uk\/362821\/"},"modified":"2026-01-10T13:31:14","modified_gmt":"2026-01-10T13:31:14","slug":"de-novo-and-inherited-dominant-variants-in-u4-and-u6-snrna-genes-cause-retinitis-pigmentosa","status":"publish","type":"post","link":"https:\/\/www.newsbeep.com\/uk\/362821\/","title":{"rendered":"De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa"},"content":{"rendered":"<p class=\"c-article-author-affiliation__address\">Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Mathieu Quinodoz,\u00a0Karolina Kaminska,\u00a0Ana Bel\u00e9n Iglesias-Romero,\u00a0Mukhtar Ullah,\u00a0Marc Folcher,\u00a0Francesca Cancellieri\u00a0&amp;\u00a0Carlo Rivolta<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Ophthalmology, University of Basel, Basel, Switzerland<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Mathieu Quinodoz,\u00a0Karolina Kaminska,\u00a0Ana Bel\u00e9n Iglesias-Romero,\u00a0Marc Folcher,\u00a0Georg Ansari,\u00a0Francesca Cancellieri,\u00a0Nicolas Feltgen,\u00a0Maximilian Pfau\u00a0&amp;\u00a0Carlo Rivolta<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester, UK<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Mathieu Quinodoz\u00a0&amp;\u00a0Carlo Rivolta<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Kim Rodenburg,\u00a0Suzanne E. de Bruijn,\u00a0Erica G. M. Boonen,\u00a0Nick Zomer,\u00a0Lara K. Holtes,\u00a0Zelia Corradi,\u00a0Stefanida Shliaga,\u00a0Daan M. Panneman,\u00a0Rebekkah J. Hitti-Malin,\u00a0Galuh D. N. Astuti,\u00a0Ronny Derks,\u00a0Alejandro Garanto,\u00a0Christian Gilissen,\u00a0Lonneke Haer-Wigman,\u00a0Alexander Hoischen,\u00a0Kornelia Neveling,\u00a0Michiel Oorsprong,\u00a0Frans P. M. Cremers\u00a0&amp;\u00a0Susanne Roosing<\/p>\n<p class=\"c-article-author-affiliation__address\">Laboratory of RNA Biology, Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Zuzana Cvackova\u00a0&amp;\u00a0David Stanek<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Otorhinolaryngology, Hearing &amp; Genes, Radboud University Medical Center, Nijmegen, the Netherlands<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Suzanne E. de Bruijn<\/p>\n<p class=\"c-article-author-affiliation__address\">The Rotterdam Eye Hospital, Rotterdam Ophthalmic Institute, Rotterdam, the Netherlands<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Erica G. M. Boonen\u00a0&amp;\u00a0L. Ingeborgh van den Born<\/p>\n<p class=\"c-article-author-affiliation__address\">Vitreous Retina Macula Consultants of New York, New York, NY, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Jacques Bijon\u00a0&amp;\u00a0K. Bailey Freund<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Ophthalmology, Rothschild Foundation Hospital, Paris, France<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Jacques Bijon<\/p>\n<p class=\"c-article-author-affiliation__address\">Departments of Ophthalmology, Pathology &amp; Cell Biology, Columbia Stem Cell Initiative, Vagelos College of Physicians and Surgeons Columbia University Irving Medical Center, New York, NY, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Stephen H. Tsang<\/p>\n<p class=\"c-article-author-affiliation__address\">Edward S. Harkness Eye Institute, Jonas Children\u2019s Vision Care (JCVC), Columbia University Irving Medical Center, New York-Presbyterian Hospital, New York, NY, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Stephen H. Tsang<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Ophthalmology, NYU Grossman School of Medicine, New York, NY, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">K. Bailey Freund<\/p>\n<p class=\"c-article-author-affiliation__address\">Division of Molecular Medicine, Leeds Institute of Medical Research, School of Medicine, University of Leeds, Leeds, UK<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Manir Ali,\u00a0Chris F. Inglehearn,\u00a0Martin McKibbin\u00a0&amp;\u00a0Carmel Toomes<\/p>\n<p class=\"c-article-author-affiliation__address\">Molecular Biology Research Unit, St John Eye Hospital Group, Jerusalem, Palestine<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Ala\u2019a AlTalbishi<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Ophthalmology, University Hospital of Lund, Lund, Sweden<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Sten Andr\u00e9asson<\/p>\n<p class=\"c-article-author-affiliation__address\">JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Gavin Arno<\/p>\n<p class=\"c-article-author-affiliation__address\">UCL Institute of Ophthalmology, University College London, London, UK<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Gavin Arno,\u00a0Jessica C. Gardner,\u00a0Alison J. Hardcastle,\u00a0Omar A. Mahroo,\u00a0Michel Michaelides\u00a0&amp;\u00a0Andrew R. Webster<\/p>\n<p class=\"c-article-author-affiliation__address\">National Institute of Health Research Biomedical Research Centre, Moorfields Eye Hospital, London, UK<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Gavin Arno,\u00a0Omar A. Mahroo,\u00a0Michel Michaelides,\u00a0Andrew R. Webster\u00a0&amp;\u00a0Siying Lin<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Genetics &amp; Genomics, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), Madrid, Spain<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Carmen Ayuso,\u00a0Fiona Blanco-Kelly,\u00a0Lidia Fern\u00e1ndez-Caballero\u00a0&amp;\u00a0Ana Isabel S\u00e1nchez-Barbero<\/p>\n<p class=\"c-article-author-affiliation__address\">Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Carmen Ayuso,\u00a0Fiona Blanco-Kelly,\u00a0Lidia Fern\u00e1ndez-Caballero\u00a0&amp;\u00a0Ana Isabel S\u00e1nchez-Barbero<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Ophthalmology, Shiley Eye Institute, University of California San Diego, La Jolla, CA, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Radha Ayyagari\u00a0&amp;\u00a0Pooja Biswas<\/p>\n<p class=\"c-article-author-affiliation__address\">Medical Genetics, Department of Precision Medicine, University of Campania \u201cLuigi Vanvitelli\u201d, Naples, Italy<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Sandro Banfi,\u00a0Marianthi Karali,\u00a0Margherita Scarpato\u00a0&amp;\u00a0Roberta Zeuli<\/p>\n<p class=\"c-article-author-affiliation__address\">Genomic Medicine, Telethon Institute of Genetics and Medicine, Pozzuoli, Italy<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Sandro Banfi<\/p>\n<p class=\"c-article-author-affiliation__address\">Hadassah Medical Center, Division of Ophthalmology, The Hebrew University of Jerusalem, Jerusalem, Israel<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Eyal Banin,\u00a0Asodu Sandeep Sarma\u00a0&amp;\u00a0Dror Sharon<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Tahsin Stefan Barakat,\u00a0Lies H. Hoefsloot\u00a0&amp;\u00a0Virginie J. M. Verhoeven<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Ophthalmology, Semmelweis University, Budapest, Hungary<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Mirella T. S. Barboni,\u00a0Krisztina Kn\u00e9zy,\u00a0Zolt\u00e1n Zsolt Nagy\u00a0&amp;\u00a0Vikt\u00f3ria Szab\u00f3<\/p>\n<p class=\"c-article-author-affiliation__address\">Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Miriam Bauwens,\u00a0Elfride De Baere,\u00a0Marieke De Bruyne,\u00a0Bart P. Leroy,\u00a0Quinten Mahieu,\u00a0Nelson Martins\u00a0&amp;\u00a0Mattias Van Heetvelde<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Biomolecular Medicine, Ghent University, Ghent, Belgium<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Miriam Bauwens,\u00a0Elfride De Baere,\u00a0Marieke De Bruyne,\u00a0Quinten Mahieu,\u00a0Nelson Martins\u00a0&amp;\u00a0Mattias Van Heetvelde<\/p>\n<p class=\"c-article-author-affiliation__address\">Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Tamar Ben-Yosef<\/p>\n<p class=\"c-article-author-affiliation__address\">GCS Auragen, Plan France Medecine Genomique, Lyon, France<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Virginie Bernard,\u00a0Luke Mansard\u00a0&amp;\u00a0Francis Ramond<\/p>\n<p class=\"c-article-author-affiliation__address\">Retina Foundation of the Southwest, Dallas, TX, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">David G. Birch\u00a0&amp;\u00a0Kaylie Jones<\/p>\n<p class=\"c-article-author-affiliation__address\">Institute for Neurosciences of Montpellier (INM), Montpellier University, INSERM, Montpellier, France<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Beatrice Bocquet,\u00a0Vasiliki Kalatzis,\u00a0Ga\u00ebl Manes,\u00a0Luke Mansard\u00a0&amp;\u00a0Isabelle Meunier<\/p>\n<p class=\"c-article-author-affiliation__address\">National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Montpellier, France<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Beatrice Bocquet,\u00a0Vasiliki Kalatzis\u00a0&amp;\u00a0Isabelle Meunier<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Ophthalmology, Leiden University Medical Center (LUMC), Leiden, the Netherlands<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Camiel J. F. Boon<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Ophthalmology, Amsterdam University Medical Center, Amsterdam, the Netherlands<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Camiel J. F. Boon<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Ophthalmology and Human Genetics, University of Michigan, Ann Arbor, MI, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Kari Branham<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Ophthalmology, University Hospital Necker Enfants Malades, APHP, Paris Cit\u00e9 University, Paris, France<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Dominique Bremond-Gignac<\/p>\n<p class=\"c-article-author-affiliation__address\">UMRS1138, Centre de Recherche des Cordeliers, Universit\u00e9 Paris Cit\u00e9, INSERM, Paris, France<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Dominique Bremond-Gignac,\u00a0Cyril Burin des Roziers\u00a0&amp;\u00a0Sophie Valleix<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Optometry and Vision Sciences, The University of Melbourne, Melbourne, Victoria, Australia<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Alexis Ceecee Britten-Jones<\/p>\n<p class=\"c-article-author-affiliation__address\">Ocular Genomics Institute, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Kinga M. Bujakowska,\u00a0Eric A. Pierce,\u00a0Emily Place\u00a0&amp;\u00a0Riccardo Sangermano<\/p>\n<p class=\"c-article-author-affiliation__address\">Service de M\u00e9decine G\u00e9nomique des Maladies de Syst\u00e8me et d\u2019Organe, H\u00f4pital Cochin, AP-HP Centre Universit\u00e9 Paris Cit\u00e9, Paris, France<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Cyril Burin des Roziers\u00a0&amp;\u00a0Sophie Valleix<\/p>\n<p class=\"c-article-author-affiliation__address\">Laboratoire de Biologie M\u00e9dicale SeqOIA, Site Broussais, Paris, France<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Cyril Burin des Roziers\u00a0&amp;\u00a0Sophie Valleix<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Epidemiology and Human Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Elizabeth L. Cadena,\u00a0Stephen P. Daiger\u00a0&amp;\u00a0Lori S. Sullivan<\/p>\n<p class=\"c-article-author-affiliation__address\">Vista Vision Eye Clinic, Brescia, Italy<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Giacomo Calzetti<\/p>\n<p class=\"c-article-author-affiliation__address\">Clinical Translation Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Giacomo Calzetti<\/p>\n<p class=\"c-article-author-affiliation__address\">Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Luca Cattaneo,\u00a0Simone Gana\u00a0&amp;\u00a0Enza Maria Valente<\/p>\n<p class=\"c-article-author-affiliation__address\">Institute of Genetics, School of Genetics and Microbiology, Trinity College Dublin, The University of Dublin, Dublin, Ireland<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Naomi Chadderton,\u00a0G. Jane Farrar\u00a0&amp;\u00a0Laura Whelan<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Ophthalmology, TUM University Hospital, School of Medicine and Health, Technical University of Munich, Munich, Germany<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Peter Charbel Issa<\/p>\n<p class=\"c-article-author-affiliation__address\">Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Peter Charbel Issa<\/p>\n<p class=\"c-article-author-affiliation__address\">Servi\u00e7o de Oftalmologia, Instituto de Oftalmologia Dr. Gama Pinto, Lisboa, Portugal<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Lu\u00edsa Coutinho-Santos\u00a0&amp;\u00a0Cristina M. Santos<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Cell Therapy and Regenerative Medicine, Andalusian Molecular Biology and Regenerative Medicine Centre, CABIMER, Seville, Spain<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Berta de la Cerda<\/p>\n<p class=\"c-article-author-affiliation__address\">Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">John N. De Roach,\u00a0Tina M. Lamey\u00a0&amp;\u00a0Terri L. McLaren<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Head and Skin, Ghent University, Ghent, Belgium<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Julie De Zaeytijd\u00a0&amp;\u00a0Bart P. Leroy<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Julie De Zaeytijd\u00a0&amp;\u00a0Bart P. Leroy<\/p>\n<p class=\"c-article-author-affiliation__address\">Universit\u00e9 de Lille, INSERM U1172 &#8211; LilNCog &#8211; Lille Neuroscience &amp; Cognition, Lille, France<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Claire-Marie Dhaenens<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Lubica Dudakova,\u00a0Petra Liskova\u00a0&amp;\u00a0Marie Vajter<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Ophthalmology, University of California, San Francisco, Wayne and Gladys Valley Center for Vision, San Francisco, CA, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Jacque L. Duncan<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Medical Retina, Singapore National Eye Centre, Singapore, Singapore<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Beau J. Fenner<\/p>\n<p class=\"c-article-author-affiliation__address\">Ophthalmology and Visual Sciences Academic Clinical Program, Duke-NUS Graduate Medical School, Singapore, Singapore<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Beau J. Fenner<\/p>\n<p class=\"c-article-author-affiliation__address\">Singapore Eye Research Institute, Singapore, Singapore<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Beau J. Fenner<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Ophthalmology, Federal University of S\u00e3o Paulo, UNIFESP, S\u00e3o Paulo, Brazil<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Juliana M. Ferraz Sallum<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Pediatrics, Amalia Children\u2019s Hospital, Radboud University Medical Center, Nijmegen, the Netherlands<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Alejandro Garanto<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, Barcelona, Spain<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Roser Gonz\u00e0lez-Duarte\u00a0&amp;\u00a0Rebeca Valero<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Kensuke Goto,\u00a0Taro Kominami\u00a0&amp;\u00a0Ai Fujita Sajiki<\/p>\n<p class=\"c-article-author-affiliation__address\">School of Biological Sciences, Division of Evolution, Infection, and Genomics, The University of Manchester, Manchester, UK<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Sam Griffiths-Jones,\u00a0Gillian I. Rice\u00a0&amp;\u00a0Jamie M. Ellingford<\/p>\n<p class=\"c-article-author-affiliation__address\">Institute for Medical Genetics and Applied Genomics, University of T\u00fcbingen, Institute for Ophthalmic Research, University Hospital T\u00fcbingen, T\u00fcbingen, Germany<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Tobias B. Haack\u00a0&amp;\u00a0Theresia Zuleger<\/p>\n<p class=\"c-article-author-affiliation__address\">Center for Rare Disease, University of T\u00fcbingen, T\u00fcbingen, Germany<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Tobias B. Haack<\/p>\n<p class=\"c-article-author-affiliation__address\">Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE), Ghana, South Africa<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Tobias B. Haack<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Ophthalmology, The Jikei University School of Medicine, Minato-ku, Japan<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Takaaki Hayashi\u00a0&amp;\u00a0Kei Mizobuchi<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Ophthalmology and Vision Sciences, Ocular Genetics Program, The Hospital for Sick Children, Toronto, Ontario, Canada<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Elise H\u00e9on<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Alexander Hoischen<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Ophthalmology, Oslo University Hospital, Oslo, Norway<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Josephine P. Holtan<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Carel B. Hoyng\u00a0&amp;\u00a0Caroline C. W. Klaver<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Ophthalmology, Section of Pediatric Ophthalmology, Strabismus, and Ocular Genetics, DOH Eye Center, East Avenue Medical Center, Quezon City, Philippines<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Manuel Benjamin B. Ibanez IV<\/p>\n<p class=\"c-article-author-affiliation__address\">Section of Pediatric Ophthalmology, Strabismus, and Ocular Genetics, Makati Medical Center, Makati City, Philippines<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Manuel Benjamin B. Ibanez IV<\/p>\n<p class=\"c-article-author-affiliation__address\">Division of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Takeshi Iwata,\u00a0Yang Pan,\u00a0Akiko Suga\u00a0&amp;\u00a0Kazutoshi Yoshitake<\/p>\n<p class=\"c-article-author-affiliation__address\">deCODE genetics, Amgen Inc., Reykjavik, Iceland<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Brynjar O. Jensson,\u00a0Kari Stefansson\u00a0&amp;\u00a0Patrick Sulem<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Inherited Retinal Dystrophies, Ophthalmic Genetics Group, OMMA, Ophthalmological Institute of Athens, Athens, Greece<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Smaragda Kamakari<\/p>\n<p class=\"c-article-author-affiliation__address\">Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania \u201cLuigi Vanvitelli\u201d, Naples, Italy<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Marianthi Karali\u00a0&amp;\u00a0Francesca Simonelli<\/p>\n<p class=\"c-article-author-affiliation__address\">Center for Rare Retinal Diseases, AugenZentrum Siegburg, MVZ Augen\u00e4rztliches Diagnostik- und Therapiecentrum Siegburg GmbH, Siegburg, Germany<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Ulrich Kellner<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Ophthalmology, Erasmus MC University Medical Center, Rotterdam, the Netherlands<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Caroline C. W. Klaver,\u00a0Alberta A. H. J. Thiadens\u00a0&amp;\u00a0Virginie J. M. Verhoeven<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Pediatric Surgery, Division of Pediatric Ophthalmology, Montreal Children\u2019s Hospital, McGill University Health Center (MUHC), Montreal, Quebec, Canada<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Robert K. Koenekoop\u00a0&amp;\u00a0Irma Lopez<\/p>\n<p class=\"c-article-author-affiliation__address\">Institute for Ophthalmic Research, Centre for Ophthalmology, University Hospital T\u00fcbingen, T\u00fcbingen, Germany<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Susanne Kohl\u00a0&amp;\u00a0Bernd Wissinger<\/p>\n<p class=\"c-article-author-affiliation__address\">University Eye Hospital, Centre for Ophthalmology, University Hospital T\u00fcbingen, T\u00fcbingen, Germany<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Laura K\u00fchlewein\u00a0&amp;\u00a0Katarina Stingl<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Ophthalmology, Rambam Health Care Campus, Haifa, Israel<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Rina Leibu<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Petra Liskova\u00a0&amp;\u00a0Marie Vajter<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Genetics, Institute of Ophthalmology \u201cConde de Valenciana\u201d, Mexico City, Mexico<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Victor R. de J. L\u00f3pez-Rodr\u00edguez\u00a0&amp;\u00a0Juan C. Zenteno<\/p>\n<p class=\"c-article-author-affiliation__address\">Section of Ophthalmology, King\u2019s College London, St. Thomas\u2019 Hospital Campus, London, UK<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Omar A. Mahroo<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, UK<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Omar A. Mahroo<\/p>\n<p class=\"c-article-author-affiliation__address\">Molecular Genetics Laboratory, Montpellier University, CHU Montpellier, Montpellier, France<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Luke Mansard<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Ophthalmology, Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Madrid, Spain<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">M. Pilar Mart\u00edn-Guti\u00e9rrez<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Laura Mauring<\/p>\n<p class=\"c-article-author-affiliation__address\">Eye Clinic, Tartu University Hospital, Tartu, Estonia<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Laura Mauring<\/p>\n<p class=\"c-article-author-affiliation__address\">Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Laura Mauring<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Ophthalmology, Leeds Teaching Hospitals NHS Trust, St James\u2019s University Hospital, Leeds, UK<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Martin McKibbin\u00a0&amp;\u00a0Rajarshi Mukherjee<\/p>\n<p class=\"c-article-author-affiliation__address\">Instituto de Investigaci\u00f3n Sanitaria La Fe (IIS La Fe) and CIBERER, Valencia, Spain<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Jos\u00e9 M. Mill\u00e1n<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Histology and Embryology, Medical University of Warsaw, Warsaw, Poland<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Monika O\u0142dak<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Ophthalmology, School of Medicine, University of Crete, Heraklion, Crete, Greece<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Anastasia Papachristou,\u00a0Miltiadis K. Tsilimbaris\u00a0&amp;\u00a0Pavlina Tsoka<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Medicine and Surgery, Medical Genetics, University of Parma, Parma, Italy<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Antonio Percesepe<\/p>\n<p class=\"c-article-author-affiliation__address\">UCT\/MRC Precision and Genomic Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Raj Ramesar,\u00a0Lisa Roberts\u00a0&amp;\u00a0Casey Valentine<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Medical Genetics, Saint-Etienne University Hospital, Saint-Etienne, France<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Francis Ramond<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Ophthalmology, HUB-Erasme Hospital, Brussels, Belgium<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Florence Andr\u00e9e Rasquin<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Neuroscience, Biodonostia Health Research Institute, Donostia-San Sebasti\u00e1n, Spain<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Mar\u00eda Rodr\u00edguez-Hidalgo\u00a0&amp;\u00a0Javier Ruiz-Ederra<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Genetic, Physical Anthropology and Animal Physiology, University of the Basque Country (UPV\/EHU), Leioa, Spain<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Mar\u00eda Rodr\u00edguez-Hidalgo<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Ophthalmology, University of the Basque Country (UPV\/EHU), San Sebasti\u00e1n, Spain<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Javier Ruiz-Ederra<\/p>\n<p class=\"c-article-author-affiliation__address\">West Midlands Clinical Genetics Unit, Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust, Birmingham, UK<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Ataf H. Sabir<\/p>\n<p class=\"c-article-author-affiliation__address\">College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Ataf H. Sabir<\/p>\n<p class=\"c-article-author-affiliation__address\">iNOVA4Health, NOVA Medical School, Faculdade de Ci\u00eancias M\u00e9dicas, NMS, FCM, Universidade NOVA de Lisboa, Lisboa, Portugal<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Cristina M. Santos<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Clinical Pharmacology, Medical University of Vienna, Vienna, Austria<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Hendrik P. N. Scholl<\/p>\n<p class=\"c-article-author-affiliation__address\">Pallas Kliniken AG, Pallas Klinik Z\u00fcrich, Z\u00fcrich, Switzerland<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Hendrik P. N. Scholl<\/p>\n<p class=\"c-article-author-affiliation__address\">European Vision Institute, Basel, Switzerland<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Hendrik P. N. Scholl<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Sabrina G. Signorini<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Medical Genetics, ULS Santa Maria, Lisboa, Portugal<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Ana Berta Sousa<\/p>\n<p class=\"c-article-author-affiliation__address\">Laboratory of Basic Immunology, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Ana Berta Sousa<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Ophthalmology, School of Medicine, University of Ioannina, Ioannina, Greece<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Maria Stefaniotou\u00a0&amp;\u00a0Georgia G. Yioti<\/p>\n<p class=\"c-article-author-affiliation__address\">Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Kari Stefansson<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Ophthalmology, Medical University of Warsaw, Warsaw, Poland<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Jacek P. Szaflik<\/p>\n<p class=\"c-article-author-affiliation__address\">SPKSO Ophthalmic University Hospital in Warsaw, Warsaw, Poland<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Jacek P. Szaflik<\/p>\n<p class=\"c-article-author-affiliation__address\">Medical Genetics and Prenatal Diagnostics Clinic, Children\u2019s Clinical University Hospital, Riga, Latvia<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Gita Taurina<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Ophthalmology; Oculogenetics Unit, Jules Gonin University Hospital; University of Lausanne, Lausanne, Switzerland<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Viet H. Tran\u00a0&amp;\u00a0Veronika Vaclavik<\/p>\n<p class=\"c-article-author-affiliation__address\">Centre for Gene Therapy &amp; Regenerative Medicine, King\u2019s College London, London, UK<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Viet H. Tran<\/p>\n<p class=\"c-article-author-affiliation__address\">Eye Disease Clinic, Children\u2019s University Hospital Riga, Riga, Latvia<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Sandra Valeina<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Molecular Medicine, University of Pavia, Pavia, Italy<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Enza Maria Valente<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Ophthalmology, Pediatric Ophthalmology and Ophthalmogenetics, University Hospitals Leuven, Leuven, Belgium<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Joseph van Aerschot<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Science, University of Auckland, Auckland, New Zealand<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Andrea L. Vincent<\/p>\n<p class=\"c-article-author-affiliation__address\">School of Pharmacy and Biomolecular Sciences (PBS), RCSI University of Medicine and Health Sciences, Dublin, Ireland<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Laura Whelan<\/p>\n<p class=\"c-article-author-affiliation__address\">FutureNeuro Research Ireland Centre, RCSI University of Medicine and Health Sciences, Dublin, Ireland<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Laura Whelan<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Biochemistry, Faculty of Medicine, UNAM, Mexico City, Mexico<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Juan C. Zenteno<\/p>\n<p class=\"c-article-author-affiliation__address\">Bonei Olam &#8211; Center for Rare Jewish Genetic Diseases, Brooklyn, NY, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Chaim Landau<\/p>\n<p class=\"c-article-author-affiliation__address\">Physicians Dialysis, Miami, FL, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Allan I. Jacob<\/p>\n<p class=\"c-article-author-affiliation__address\">Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Saint Mary\u2019s Hospital, Manchester, UK<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Siying Lin<\/p>\n<p class=\"c-article-author-affiliation__address\">Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution, Infection and Genomics, University of Manchester, Manchester, UK<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Siying Lin<\/p>\n<p class=\"c-article-author-affiliation__address\">Department of Ophthalmology, Columbia University Irving Medical Center, New York, NY, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Winston Lee<\/p>\n<p class=\"c-article-author-affiliation__address\">Genomics England Ltd, London, UK<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Jamie M. Ellingford<\/p>\n<p>M.Q., F.P.M.C., S.R. and C.R. conceived and designed the study. M.Q., K.R., K.K. and M.U. analyzed pedigrees and genotypes. J.B., S.H.T., C.L., A.I.J., K.B.F. and W.L. contributed to the collection of material and clinical data for family M1-A. F.P.M.C., S.E.d.B., D.M.P., R.J.H.-M. and S.R. coordinated the collection of DNA samples. K.R., S.E.d.B., E.G.M.B., N.Z., L.K.H., Z. Corradi, S.S., D.M.P. and R.J.H.-M. performed the majority of the Sanger sequencing screening. K.K., A.B.I.-R. and M.F. carried out the molecular biology experiments. M.Q. and C.R. performed the statistical analyses. M.Q. and J.M.E. retrieved and analyzed large-scale data. K.R. and S.R. coordinated the genotyping of the cohorts. W.L. was responsible for clinical data analysis. Z. Cvackova and D. Stanek conducted all in vitro experiments. F.P.M.C., C.R. and S.R. supervised the project. M.Q., K.R., F.P.M.C., J.M.E., D. Stanek, S.R. and C.R. prepared the original draft of the manuscript. M.Q., K.R., S.R. and C.R. reviewed and edited the manuscript. M.A., A.A., S.A., G. Ansari, G. Arno, G.D.N.A., C.A., R.A., S.B., E.B., T.S.B., M.T.S.B., M.B., T.B.-Y., V.B., D.G.B., P.B., F.B.-K., B.B., C.J.F.B., K.B., D.B.-G., A.C.B.-J., K.M.B., C.B.d.R., E.L.C., G.C., F.C., L.C., N.C., P.C.I., L.C.-S., S.P.D., E.D.B., M.D.B., B.d.l.C., J.N.D.R., J.D.Z., R.D., C.-M.D., L.D., J.L.D., G.J.F., N.F., B.J.F., L.F.-C., J.M.F.S., S.G., A.G., J.C.G., C.G., R.G.-D., K.G., S.G.-J., T.B.H., L.H.-W., A.J.H., T.H., E.H., L.H.H., A.H., J.P.H., C.B.H., M.B.B.I., C.F.I., T.I., B.O.J., K.J., V.K., S. Kamakari, M.K., U.K., C.C.W.K., K.K., R.K.K., S. Kohl, T.K., L.K., T.M.L., R.L., B.P.L., S.L., P.L., I.L., V.R.d.J.L.-R., Q.M., O.A.M., G.M., L. Mansard, M.P.M.-G., N.M., L. Mauring, M. McKibbin, T.L.M., I.M., M. Michaelides, J.M.M., K.M., R.M., Z.Z.N., K.N., M. O\u0142dak, M. Oorsprong, Y.P., A. Papachristou, A. Percesepe, M.P., E.A.P., E.P., R.R., F.R., F.A.R., G.I.R., L.R., M.R.-H., J.R.-E., A.H.S., A.F.S., A.I.S.-B., A.S.S., R.S., C.M.S., M. Scarpato, H.P.N.S., D. Sharon, S.G.S., F.S., A.B.S., M. Stefaniotou, K. Stefansson, K. Stingl, A.S., P.S., L.S.S., V.S., J.P.S., G.T., A.A.H.J.T., C.T., V.H.T., M.K.T., P.T., V.V., M.V., S. Valeina, E.M.V., C.V., R.V., S. Valleix, J.v.A., L.I.v.d.B., M.V.H., V.J.M.V., A.L.V., A.R.W., L.W., B.W., G.G.Y., K.Y., J.C.Z., R.Z. and T.Z. were instrumental in acquiring funding, clinical data, validation of genetic or molecular data, and reviewing and editing the final manuscript. All authors approved the final content of this work.<\/p>\n","protected":false},"excerpt":{"rendered":"Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland Mathieu Quinodoz,\u00a0Karolina Kaminska,\u00a0Ana Bel\u00e9n Iglesias-Romero,\u00a0Mukhtar&hellip;\n","protected":false},"author":2,"featured_media":362822,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[10],"tags":[5083,5085,3251,5082,21124,59,5084,3250,102,5081,12478,56,54,55],"class_list":["post-362821","post","type-post","status-publish","format-standard","has-post-thumbnail","category-health","tag-agriculture","tag-animal-genetics-and-genomics","tag-biomedicine","tag-cancer-research","tag-diseases","tag-gb","tag-gene-function","tag-general","tag-health","tag-human-genetics","tag-medical-genetics","tag-uk","tag-united-kingdom","tag-unitedkingdom"],"_links":{"self":[{"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/posts\/362821","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/comments?post=362821"}],"version-history":[{"count":0,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/posts\/362821\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/media\/362822"}],"wp:attachment":[{"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/media?parent=362821"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/categories?post=362821"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/tags?post=362821"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}