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Comprehensive varia...
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia
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- Solaki, Maria (författare)
- Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany
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- Baumann, Britta (författare)
- Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany
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- Reuter, Peggy (författare)
- Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany
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- Andreasson, Sten (författare)
- Department of Ophthalmology, University Hospital Lund, Lund, Sweden
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- Audo, Isabelle (författare)
- Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France; CHNO des Quinze-Vingts, Centre de Référence Maladies Rares REFERET, and INSERM-DGOS CIC1423, Paris, France
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- Ayuso, Carmen (författare)
- 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), ISCIII, Madrid, Spain
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- Balousha, Ghassan (författare)
- Department of Pathology and Histology, Faculty of Medicine, Al-Quds University, Eastern Jerusalem, Palestine
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- Benedicenti, Francesco (författare)
- Clinical Genetics Service and South Tyrol Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy
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- Birch, David (författare)
- Retina Foundation of the Southwest, TX, Dallas, United States
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- Bitoun, Pierre (författare)
- Genetique Medicale, CHU Paris Nord, Hopital Jean Verdier, Bondy Cedex, France
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- Blain, Delphine (författare)
- National Eye Institute/NEI, MD, Bethesda, United States
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- Bocquet, Beatrice (författare)
- National Reference Centre for Inherited Sensory Diseases, Institute for Neurosciences of Montpellier (INM), University of Montpellier, INSERM, Montpellier, France
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- Branham, Kari (författare)
- Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, MI, Ann Arbor, United States
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- Català-Mora, Jaume (författare)
- Unitat de Distròfies Hereditàries de Retina Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain
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- De Baere, Elfride (författare)
- Department of Biomolecular Medicine, Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium
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- Dollfus, Helene (författare)
- CARGO, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; U-1112, Inserm, Faculté de Médecine, Université de Strasbourg, Strasbourg, France
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- Falana, Mohammed (författare)
- Department of Pathology and Histology, Faculty of Medicine, Al-Quds University, Eastern Jerusalem, Palestine
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- Giorda, Roberto (författare)
- Molecular Biology Laboratory, Scientific Institute IRCCS E. Medea, Lecco, Bosisio Parini, Italy
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- Golovleva, Irina (författare)
- Umeå universitet,Medicinsk och klinisk genetik
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- Gottlob, Irene (författare)
- The University of Leicester Ulverscroft Eye Unit, Leicester Royal Infirmary, Leicester, United Kingdom
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- Heckenlively, John R. (författare)
- Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, MI, Ann Arbor, United States
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- Jacobson, Samuel G. (författare)
- Department of Ophthalmology, Perelman School of Medicine, Scheie Eye Institute, University of Pennsylvania, PA, Philadelphia, United States
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- Jones, Kaylie (författare)
- Retina Foundation of the Southwest, TX, Dallas, United States
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- Jägle, Herbert (författare)
- Department of Ophthalmology, University of Regensburg, Regensburg, Germany
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- Janecke, Andreas R. (författare)
- Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria
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- Kellner, Ulrich (författare)
- Zentrum für Seltene Netzhauterkrankungen, AugenZentrum Siegburg, MVZ Augenärztliches Diagnostik- und Therapiecentrum Siegburg GmbH, Siegburg, Germany; RetinaScience, Bonn, Germany
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- Liskova, Petra (författare)
- Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic
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- Lorenz, Birgit (författare)
- Department of Ophthalmology, Justus-Liebig University Giessen, Giessen, Germany; Department of Ophthalmology, Universitaetsklinikum Bonn, Bonn, Germany
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- Martorell-Sampol, Loreto (författare)
- Genetica Molecular-Edifici Docent, Hospital Sant Joan de Deu, Esplugues-Barcelona, Spain
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- Messias, André (författare)
- Department of Ophthalmology, Otorhinolaryngology, and Head and Neck Surgery, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil
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- Meunier, Isabelle (författare)
- National Reference Centre for Inherited Sensory Diseases, Montpellier University Hospital, University of Montpellier, Montpellier, France; Sensgene Care Network, France
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- Belga Ottoni Porto, Fernanda (författare)
- INRET Clínica e Centro de Pesquisa, IEP Santa Casa Belo Horizonte, MG, Belo Horizonte, Brazil
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- Papageorgiou, Eleni (författare)
- Department of Ophthalmology, University Hospital of Larissa, Larissa, Mezourlo, Greece
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- Plomp, Astrid S. (författare)
- Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands
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- de Ravel, Thomy J. L. (författare)
- Centre for Medical Genetics, University Hospital Brussels, Brussels, Belgium
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- Reiff, Charlotte M. (författare)
- Augenarztpraxis am Stadttheater, Freiburg, Germany
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- Renner, Agnes B. (författare)
- Augenarztpraxis Regensburg, Regensburg, Germany
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- Rosenberg, Thomas (författare)
- Department of Ophthalmology, National Eye Clinic, Glostrup Hospital, Glostrup, Denmark
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- Rudolph, Günther (författare)
- University Eye Hospital, Ludwig Maximilians University, Munich, Germany
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- Salati, Roberto (författare)
- Scientific Institute, IRCCS Eugenio Medea, Pediatric Ophthalmology Unit, Lecco, Bosisio Parini, Italy
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- Sener, E. Cumhur (författare)
- Strabismus and Pediatric Ophthalmology, Private Practice, Ankara, Turkey
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- Sieving, Paul A. (författare)
- Center for Ocular Regenerative Therapy, School of Medicine, University of California Davis, Sacramento, United States
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- Stanzial, Franco (författare)
- Clinical Genetics Service and South Tyrol Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy
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- Traboulsi, Elias I. (författare)
- Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic Foundation, OH, Cleveland, United States
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- Tsang, Stephen H. (författare)
- Department of Ophthalmology, Pathology and Cell Biology, College of Physicians and Surgeons, Columbia Stem Cell Initiative, Columbia University, NY, New York City, United States
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- Varsanyi, Balázs (författare)
- Department of Ophthalmology, Medical School, University of Pécs and Ganglion Medical Center, Pécs, Pécs, Hungary
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- Weleber, Richard G. (författare)
- Oregon Health & Science University, Ophthalmic Genetics Service of the Casey Eye Institute, 515 SW Campus Drive, OR, Portland, United States
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- Zobor, Ditta (författare)
- Centre for Ophthalmology, Institute for Ophthalmic Research, University Hospital Tübingen, Tübingen, Germany; Department of Ophthalmology, Semmelweis University Budapest, Budapest, Hungary
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- Stingl, Katarina (författare)
- Center for Ophthalmology, University Eye Hospital, University of Tübingen, Tübingen, Germany; Center for Rare Eye Diseases, University of Tübingen, Tübingen, Germany
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- Wissinger, Bernd (författare)
- Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany
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- Kohl, Susanne (författare)
- Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany
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(creator_code:org_t)
- 2022-04-14
- 2022
- Engelska.
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Ingår i: Human Mutation. - : John Wiley & Sons. - 1059-7794 .- 1098-1004. ; 43:7, s. 832-858
- Relaterad länk:
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https://doi.org/10.1...
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https://umu.diva-por... (primary) (Raw object)
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by impaired color discrimination, low visual acuity, photosensitivity, and nystagmus. To date, six genes have been associated with ACHM (CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, and ATF6), the majority of these being implicated in the cone phototransduction cascade. CNGA3 encodes the CNGA3 subunit of the cyclic nucleotide-gated ion channel in cone photoreceptors and is one of the major disease-associated genes for ACHM. Herein, we provide a comprehensive overview of the CNGA3 variant spectrum in a cohort of 1060 genetically confirmed ACHM patients, 385 (36.3%) of these carrying “likely disease-causing” variants in CNGA3. Compiling our own genetic data with those reported in the literature and in public databases, we further extend the CNGA3 variant spectrum to a total of 316 variants, 244 of which we interpreted as “likely disease-causing” according to ACMG/AMP criteria. We report 48 novel “likely disease-causing” variants, 24 of which are missense substitutions underlining the predominant role of this mutation class in the CNGA3 variant spectrum. In addition, we provide extensive in silico analyses and summarize reported functional data of previously analyzed missense, nonsense and splicing variants to further advance the pathogenicity assessment of the identified variants.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- achromatopsia
- CNGA3
- cyclic nucleotide-gated ion channel
- in silico analysis
- variant classification
- variant spectrum
- medicinsk genetik
- Medical Genetics
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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Solaki, Maria
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Baumann, Britta
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Reuter, Peggy
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Andreasson, Sten
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Audo, Isabelle
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Ayuso, Carmen
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Balousha, Ghassa ...
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Benedicenti, Fra ...
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Birch, David
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Bitoun, Pierre
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Blain, Delphine
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Bocquet, Beatric ...
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Branham, Kari
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Català-Mora, Jau ...
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De Baere, Elfrid ...
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Dollfus, Helene
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Falana, Mohammed
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Giorda, Roberto
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Golovleva, Irina
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Gottlob, Irene
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Heckenlively, Jo ...
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Jacobson, Samuel ...
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Jones, Kaylie
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Jägle, Herbert
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Janecke, Andreas ...
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Kellner, Ulrich
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Liskova, Petra
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Lorenz, Birgit
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Martorell-Sampol ...
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Messias, André
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Meunier, Isabell ...
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Belga Ottoni Por ...
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Papageorgiou, El ...
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Plomp, Astrid S.
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de Ravel, Thomy ...
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Reiff, Charlotte ...
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Renner, Agnes B.
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Rosenberg, Thoma ...
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Rudolph, Günther
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Salati, Roberto
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Sener, E. Cumhur
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Sieving, Paul A.
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Stanzial, Franco
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Traboulsi, Elias ...
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Tsang, Stephen H ...
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Varsanyi, Balázs
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Weleber, Richard ...
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Zobor, Ditta
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Stingl, Katarina
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Wissinger, Bernd
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Kohl, Susanne
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Human Mutation
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Umeå universitet