Sökning: onr:"swepub:oai:DiVA.org:umu-194641" > Comprehensive varia...
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000 | 11250naa a2201009 4500 | |
001 | oai:DiVA.org:umu-194641 | |
003 | SwePub | |
008 | 220513s2022 | |||||||||||000 ||eng| | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1946412 URI |
024 | 7 | a https://doi.org/10.1002/humu.243712 DOI |
040 | a (SwePub)umu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Solaki, Mariau Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany4 aut |
245 | 1 0 | a Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia |
264 | c 2022-04-14 | |
264 | 1 | b John Wiley & Sons,c 2022 |
338 | a electronic2 rdacarrier | |
520 | a 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. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
653 | a achromatopsia | |
653 | a CNGA3 | |
653 | a cyclic nucleotide-gated ion channel | |
653 | a in silico analysis | |
653 | a variant classification | |
653 | a variant spectrum | |
653 | a medicinsk genetik | |
653 | a Medical Genetics | |
700 | 1 | a Baumann, Brittau Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany4 aut |
700 | 1 | a Reuter, Peggyu Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany4 aut |
700 | 1 | a Andreasson, Stenu Department of Ophthalmology, University Hospital Lund, Lund, Sweden4 aut |
700 | 1 | a Audo, Isabelleu 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, France4 aut |
700 | 1 | a Ayuso, Carmenu 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, Spain4 aut |
700 | 1 | a Balousha, Ghassanu Department of Pathology and Histology, Faculty of Medicine, Al-Quds University, Eastern Jerusalem, Palestine4 aut |
700 | 1 | a Benedicenti, Francescou Clinical Genetics Service and South Tyrol Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy4 aut |
700 | 1 | a Birch, Davidu Retina Foundation of the Southwest, TX, Dallas, United States4 aut |
700 | 1 | a Bitoun, Pierreu Genetique Medicale, CHU Paris Nord, Hopital Jean Verdier, Bondy Cedex, France4 aut |
700 | 1 | a Blain, Delphineu National Eye Institute/NEI, MD, Bethesda, United States4 aut |
700 | 1 | a Bocquet, Beatriceu National Reference Centre for Inherited Sensory Diseases, Institute for Neurosciences of Montpellier (INM), University of Montpellier, INSERM, Montpellier, France4 aut |
700 | 1 | a Branham, Kariu Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, MI, Ann Arbor, United States4 aut |
700 | 1 | a Català-Mora, Jaumeu Unitat de Distròfies Hereditàries de Retina Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain4 aut |
700 | 1 | a De Baere, Elfrideu Department of Biomolecular Medicine, Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium4 aut |
700 | 1 | a Dollfus, Heleneu CARGO, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; U-1112, Inserm, Faculté de Médecine, Université de Strasbourg, Strasbourg, France4 aut |
700 | 1 | a Falana, Mohammedu Department of Pathology and Histology, Faculty of Medicine, Al-Quds University, Eastern Jerusalem, Palestine4 aut |
700 | 1 | a Giorda, Robertou Molecular Biology Laboratory, Scientific Institute IRCCS E. Medea, Lecco, Bosisio Parini, Italy4 aut |
700 | 1 | a Golovleva, Irinau Umeå universitet,Medicinsk och klinisk genetik4 aut0 (Swepub:umu)irgo0001 |
700 | 1 | a Gottlob, Ireneu The University of Leicester Ulverscroft Eye Unit, Leicester Royal Infirmary, Leicester, United Kingdom4 aut |
700 | 1 | a Heckenlively, John R.u Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, MI, Ann Arbor, United States4 aut |
700 | 1 | a Jacobson, Samuel G.u Department of Ophthalmology, Perelman School of Medicine, Scheie Eye Institute, University of Pennsylvania, PA, Philadelphia, United States4 aut |
700 | 1 | a Jones, Kaylieu Retina Foundation of the Southwest, TX, Dallas, United States4 aut |
700 | 1 | a Jägle, Herbertu Department of Ophthalmology, University of Regensburg, Regensburg, Germany4 aut |
700 | 1 | a Janecke, Andreas R.u Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria4 aut |
700 | 1 | a Kellner, Ulrichu Zentrum für Seltene Netzhauterkrankungen, AugenZentrum Siegburg, MVZ Augenärztliches Diagnostik- und Therapiecentrum Siegburg GmbH, Siegburg, Germany; RetinaScience, Bonn, Germany4 aut |
700 | 1 | a Liskova, Petrau 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 Republic4 aut |
700 | 1 | a Lorenz, Birgitu Department of Ophthalmology, Justus-Liebig University Giessen, Giessen, Germany; Department of Ophthalmology, Universitaetsklinikum Bonn, Bonn, Germany4 aut |
700 | 1 | a Martorell-Sampol, Loretou Genetica Molecular-Edifici Docent, Hospital Sant Joan de Deu, Esplugues-Barcelona, Spain4 aut |
700 | 1 | a Messias, Andréu Department of Ophthalmology, Otorhinolaryngology, and Head and Neck Surgery, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil4 aut |
700 | 1 | a Meunier, Isabelleu National Reference Centre for Inherited Sensory Diseases, Montpellier University Hospital, University of Montpellier, Montpellier, France; Sensgene Care Network, France4 aut |
700 | 1 | a Belga Ottoni Porto, Fernandau INRET Clínica e Centro de Pesquisa, IEP Santa Casa Belo Horizonte, MG, Belo Horizonte, Brazil4 aut |
700 | 1 | a Papageorgiou, Eleniu Department of Ophthalmology, University Hospital of Larissa, Larissa, Mezourlo, Greece4 aut |
700 | 1 | a Plomp, Astrid S.u Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands4 aut |
700 | 1 | a de Ravel, Thomy J. L.u Centre for Medical Genetics, University Hospital Brussels, Brussels, Belgium4 aut |
700 | 1 | a Reiff, Charlotte M.u Augenarztpraxis am Stadttheater, Freiburg, Germany4 aut |
700 | 1 | a Renner, Agnes B.u Augenarztpraxis Regensburg, Regensburg, Germany4 aut |
700 | 1 | a Rosenberg, Thomasu Department of Ophthalmology, National Eye Clinic, Glostrup Hospital, Glostrup, Denmark4 aut |
700 | 1 | a Rudolph, Güntheru University Eye Hospital, Ludwig Maximilians University, Munich, Germany4 aut |
700 | 1 | a Salati, Robertou Scientific Institute, IRCCS Eugenio Medea, Pediatric Ophthalmology Unit, Lecco, Bosisio Parini, Italy4 aut |
700 | 1 | a Sener, E. Cumhuru Strabismus and Pediatric Ophthalmology, Private Practice, Ankara, Turkey4 aut |
700 | 1 | a Sieving, Paul A.u Center for Ocular Regenerative Therapy, School of Medicine, University of California Davis, Sacramento, United States4 aut |
700 | 1 | a Stanzial, Francou Clinical Genetics Service and South Tyrol Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy4 aut |
700 | 1 | a Traboulsi, Elias I.u Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic Foundation, OH, Cleveland, United States4 aut |
700 | 1 | a Tsang, Stephen H.u Department of Ophthalmology, Pathology and Cell Biology, College of Physicians and Surgeons, Columbia Stem Cell Initiative, Columbia University, NY, New York City, United States4 aut |
700 | 1 | a Varsanyi, Balázsu Department of Ophthalmology, Medical School, University of Pécs and Ganglion Medical Center, Pécs, Pécs, Hungary4 aut |
700 | 1 | a Weleber, Richard G.u Oregon Health & Science University, Ophthalmic Genetics Service of the Casey Eye Institute, 515 SW Campus Drive, OR, Portland, United States4 aut |
700 | 1 | a Zobor, Dittau Centre for Ophthalmology, Institute for Ophthalmic Research, University Hospital Tübingen, Tübingen, Germany; Department of Ophthalmology, Semmelweis University Budapest, Budapest, Hungary4 aut |
700 | 1 | a Stingl, Katarinau Center for Ophthalmology, University Eye Hospital, University of Tübingen, Tübingen, Germany; Center for Rare Eye Diseases, University of Tübingen, Tübingen, Germany4 aut |
700 | 1 | a Wissinger, Berndu Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany4 aut |
700 | 1 | a Kohl, Susanneu Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany4 aut |
710 | 2 | a Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germanyb Department of Ophthalmology, University Hospital Lund, Lund, Sweden4 org |
773 | 0 | t Human Mutationd : John Wiley & Sonsg 43:7, s. 832-858q 43:7<832-858x 1059-7794x 1098-1004 |
856 | 4 | u https://doi.org/10.1002/humu.24371y Fulltext |
856 | 4 | u https://umu.diva-portal.org/smash/get/diva2:1658113/FULLTEXT02.pdfx primaryx Raw objecty fulltext:print |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-194641 |
856 | 4 8 | u https://doi.org/10.1002/humu.24371 |
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