SwePub
Sök i LIBRIS databas

  Extended search

WFRF:(Dollfus S)
 

Search: WFRF:(Dollfus S) > Comprehensive varia...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00011250naa a2201009 4500
001oai:DiVA.org:umu-194641
003SwePub
008220513s2022 | |||||||||||000 ||eng|
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1946412 URI
0247 a https://doi.org/10.1002/humu.243712 DOI
040 a (SwePub)umu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Solaki, Mariau Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany4 aut
2451 0a Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia
264 c 2022-04-14
264 1b 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 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a 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
7001 a Baumann, Brittau Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany4 aut
7001 a Reuter, Peggyu Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany4 aut
7001 a Andreasson, Stenu Department of Ophthalmology, University Hospital Lund, Lund, Sweden4 aut
7001 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
7001 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
7001 a Balousha, Ghassanu Department of Pathology and Histology, Faculty of Medicine, Al-Quds University, Eastern Jerusalem, Palestine4 aut
7001 a Benedicenti, Francescou Clinical Genetics Service and South Tyrol Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy4 aut
7001 a Birch, Davidu Retina Foundation of the Southwest, TX, Dallas, United States4 aut
7001 a Bitoun, Pierreu Genetique Medicale, CHU Paris Nord, Hopital Jean Verdier, Bondy Cedex, France4 aut
7001 a Blain, Delphineu National Eye Institute/NEI, MD, Bethesda, United States4 aut
7001 a Bocquet, Beatriceu National Reference Centre for Inherited Sensory Diseases, Institute for Neurosciences of Montpellier (INM), University of Montpellier, INSERM, Montpellier, France4 aut
7001 a Branham, Kariu Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, MI, Ann Arbor, United States4 aut
7001 a Català-Mora, Jaumeu Unitat de Distròfies Hereditàries de Retina Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain4 aut
7001 a De Baere, Elfrideu Department of Biomolecular Medicine, Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium4 aut
7001 a Dollfus, Heleneu CARGO, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; U-1112, Inserm, Faculté de Médecine, Université de Strasbourg, Strasbourg, France4 aut
7001 a Falana, Mohammedu Department of Pathology and Histology, Faculty of Medicine, Al-Quds University, Eastern Jerusalem, Palestine4 aut
7001 a Giorda, Robertou Molecular Biology Laboratory, Scientific Institute IRCCS E. Medea, Lecco, Bosisio Parini, Italy4 aut
7001 a Golovleva, Irinau Umeå universitet,Medicinsk och klinisk genetik4 aut0 (Swepub:umu)irgo0001
7001 a Gottlob, Ireneu The University of Leicester Ulverscroft Eye Unit, Leicester Royal Infirmary, Leicester, United Kingdom4 aut
7001 a Heckenlively, John R.u Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, MI, Ann Arbor, United States4 aut
7001 a Jacobson, Samuel G.u Department of Ophthalmology, Perelman School of Medicine, Scheie Eye Institute, University of Pennsylvania, PA, Philadelphia, United States4 aut
7001 a Jones, Kaylieu Retina Foundation of the Southwest, TX, Dallas, United States4 aut
7001 a Jägle, Herbertu Department of Ophthalmology, University of Regensburg, Regensburg, Germany4 aut
7001 a Janecke, Andreas R.u Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria4 aut
7001 a Kellner, Ulrichu Zentrum für Seltene Netzhauterkrankungen, AugenZentrum Siegburg, MVZ Augenärztliches Diagnostik- und Therapiecentrum Siegburg GmbH, Siegburg, Germany; RetinaScience, Bonn, Germany4 aut
7001 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
7001 a Lorenz, Birgitu Department of Ophthalmology, Justus-Liebig University Giessen, Giessen, Germany; Department of Ophthalmology, Universitaetsklinikum Bonn, Bonn, Germany4 aut
7001 a Martorell-Sampol, Loretou Genetica Molecular-Edifici Docent, Hospital Sant Joan de Deu, Esplugues-Barcelona, Spain4 aut
7001 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
7001 a Meunier, Isabelleu National Reference Centre for Inherited Sensory Diseases, Montpellier University Hospital, University of Montpellier, Montpellier, France; Sensgene Care Network, France4 aut
7001 a Belga Ottoni Porto, Fernandau INRET Clínica e Centro de Pesquisa, IEP Santa Casa Belo Horizonte, MG, Belo Horizonte, Brazil4 aut
7001 a Papageorgiou, Eleniu Department of Ophthalmology, University Hospital of Larissa, Larissa, Mezourlo, Greece4 aut
7001 a Plomp, Astrid S.u Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands4 aut
7001 a de Ravel, Thomy J. L.u Centre for Medical Genetics, University Hospital Brussels, Brussels, Belgium4 aut
7001 a Reiff, Charlotte M.u Augenarztpraxis am Stadttheater, Freiburg, Germany4 aut
7001 a Renner, Agnes B.u Augenarztpraxis Regensburg, Regensburg, Germany4 aut
7001 a Rosenberg, Thomasu Department of Ophthalmology, National Eye Clinic, Glostrup Hospital, Glostrup, Denmark4 aut
7001 a Rudolph, Güntheru University Eye Hospital, Ludwig Maximilians University, Munich, Germany4 aut
7001 a Salati, Robertou Scientific Institute, IRCCS Eugenio Medea, Pediatric Ophthalmology Unit, Lecco, Bosisio Parini, Italy4 aut
7001 a Sener, E. Cumhuru Strabismus and Pediatric Ophthalmology, Private Practice, Ankara, Turkey4 aut
7001 a Sieving, Paul A.u Center for Ocular Regenerative Therapy, School of Medicine, University of California Davis, Sacramento, United States4 aut
7001 a Stanzial, Francou Clinical Genetics Service and South Tyrol Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy4 aut
7001 a Traboulsi, Elias I.u Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic Foundation, OH, Cleveland, United States4 aut
7001 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
7001 a Varsanyi, Balázsu Department of Ophthalmology, Medical School, University of Pécs and Ganglion Medical Center, Pécs, Pécs, Hungary4 aut
7001 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
7001 a Zobor, Dittau Centre for Ophthalmology, Institute for Ophthalmic Research, University Hospital Tübingen, Tübingen, Germany; Department of Ophthalmology, Semmelweis University Budapest, Budapest, Hungary4 aut
7001 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
7001 a Wissinger, Berndu Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany4 aut
7001 a Kohl, Susanneu Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany4 aut
7102 a Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germanyb Department of Ophthalmology, University Hospital Lund, Lund, Sweden4 org
7730 t Human Mutationd : John Wiley & Sonsg 43:7, s. 832-858q 43:7<832-858x 1059-7794x 1098-1004
8564 u https://doi.org/10.1002/humu.24371y Fulltext
8564 u https://umu.diva-portal.org/smash/get/diva2:1658113/FULLTEXT02.pdfx primaryx Raw objecty fulltext:print
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-194641
8564 8u https://doi.org/10.1002/humu.24371

Find in a library

To the university's database

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Close

Copy and save the link in order to return to this view