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Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.

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Title: Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.
Authors: Vulto-van Silfhout AT; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands. Electronic address: anneke.vulto-vansilfhout@radboudumc.nl., Jazet IM; Division of Endocrinology, Department of Medicine, Leiden University Medical Center, Leiden, The Netherlands., Yzer S; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Pas J; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Demirdas S; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands., van Rossum EFC; Division of Endocrinology, Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands., Thiadens AAHJ; Department of Ophthalmology, Erasmus University Medical Center, Rotterdam, The Netherlands., van Beek R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Haer-Wigman L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Frost S; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Bauwens M; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium., De Baere E; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium., Balikova I; Department of Ophthalmology, University Hospital Leuven, Leuven, Belgium., Van den Broeck F; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium., Weisz-Hubshman M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX., Joset P; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland., Miny P; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland., Filges I; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland., Kohl S; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Center for Ophthalmology, University, Tübingen, Germany., De Angeli P; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Center for Ophthalmology, University, Tübingen, Germany., Kühlewein L; University Eye Hospital, Center for Ophthalmology, Eberhard Karls University, Tübingen, Germany., Bodenbender JP; University Eye Hospital, Center for Ophthalmology, Eberhard Karls University, Tübingen, Germany., Haack T; Institute for Medical Genetics and Applied Genomics, Eberhard Karls University, Tübingen, Germany., Poths K; Institute for Medical Genetics and Applied Genomics, Eberhard Karls University, Tübingen, Germany., Fernandez-Caballero L; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Corton M; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Blanco Kelly F; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Ayuso C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Martínez-Esteban P; Neurofisiologia Clínica, Instituto Nacional de Salud del Niño San Borja, Lima, Perú., Vissing J; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Díaz-Manera J; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom., Straub V; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom., Töpf A; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom., Lin S; NIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom., Arno G; NIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom; Division of Research, Greenwood Genetic Center, Greenwood, South CA., Macken WL; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, United Kingdom., Spillane J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom., Ramachandran R; Department of Adult Inherited Metabolic Diseases, Metabolic Medicine and Chemical Pathology, Guys and St Thomas' Hospitals NHS Foundation Trust, London, United Kingdom., de Vrieze E; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands., van Ham T; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands., Roosing S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Oud MM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Oct; Vol. 27 (10), pp. 101513. Date of Electronic Publication: 2025 Jun 28.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
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  Data: Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.
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Department of Ophthalmology, Erasmus University Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Beek+R%22">van Beek R</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Haer-Wigman+L%22">Haer-Wigman L</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Barge-Schaapveld+DQCM%22">Barge-Schaapveld DQCM</searchLink>; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Brasch-Andersen+C%22">Brasch-Andersen C</searchLink>; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Frost+S%22">Frost S</searchLink>; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Bauwens+M%22">Bauwens M</searchLink>; 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Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.<br /><searchLink fieldCode="AU" term="%22Filges+I%22">Filges I</searchLink>; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.<br /><searchLink fieldCode="AU" term="%22Kohl+S%22">Kohl S</searchLink>; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Center for Ophthalmology, University, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22De+Angeli+P%22">De Angeli P</searchLink>; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Center for Ophthalmology, University, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Kühlewein+L%22">Kühlewein L</searchLink>; University Eye Hospital, Center for Ophthalmology, Eberhard Karls University, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Bodenbender+JP%22">Bodenbender JP</searchLink>; University Eye Hospital, Center for Ophthalmology, Eberhard Karls University, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Haack+T%22">Haack T</searchLink>; 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Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Ayuso+C%22">Ayuso C</searchLink>; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Martínez-Esteban+P%22">Martínez-Esteban P</searchLink>; Neurofisiologia Clínica, Instituto Nacional de Salud del Niño San Borja, Lima, Perú.<br /><searchLink fieldCode="AU" term="%22Vissing+J%22">Vissing J</searchLink>; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Díaz-Manera+J%22">Díaz-Manera J</searchLink>; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Straub+V%22">Straub V</searchLink>; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Töpf+A%22">Töpf A</searchLink>; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Lin+S%22">Lin S</searchLink>; NIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Arno+G%22">Arno G</searchLink>; NIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom; 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