Comprehensive variant spectrum of the <i>CNGA3</i> gene in patients affected by achromatopsia-Reference-Cited by-同舟云学术

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Published:2022-04-14 Issue:7 Volume:43 Page:832-858
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Solaki Maria¹^ORCID,Baumann Britta¹,Reuter Peggy¹^ORCID,Andreasson Sten²,Audo Isabelle³⁴^ORCID,Ayuso Carmen⁵⁶,Balousha Ghassan⁷^ORCID,Benedicenti Francesco⁸^ORCID,Birch David⁹^ORCID,Bitoun Pierre¹⁰^ORCID,Blain Delphine¹¹^ORCID,Bocquet Beatrice¹²,Branham Kari¹³,Català‐Mora Jaume¹⁴^ORCID,De Baere Elfride¹⁵,Dollfus Helene¹⁶¹⁷,Falana Mohammed⁷,Giorda Roberto¹⁸^ORCID,Golovleva Irina¹⁹^ORCID,Gottlob Irene²⁰,Heckenlively John R.¹³,Jacobson Samuel G.²¹,Jones Kaylie⁹^ORCID,Jägle Herbert²²^ORCID,Janecke Andreas R.²³^ORCID,Kellner Ulrich²⁴²⁵^ORCID,Liskova Petra²⁶²⁷^ORCID,Lorenz Birgit²⁸²⁹^ORCID,Martorell‐Sampol Loreto³⁰^ORCID,Messias André³¹^ORCID,Meunier Isabelle³²³³,Belga Ottoni Porto Fernanda³⁴^ORCID,Papageorgiou Eleni³⁵^ORCID,Plomp Astrid S.³⁶^ORCID,de Ravel Thomy J. L.³⁷,Reiff Charlotte M.³⁸,Renner Agnes B.³⁹,Rosenberg Thomas⁴⁰^ORCID,Rudolph Günther⁴¹^ORCID,Salati Roberto⁴²,Sener E. Cumhur⁴³,Sieving Paul A.⁴⁴^ORCID,Stanzial Franco⁸^ORCID,Traboulsi Elias I.⁴⁵,Tsang Stephen H.⁴⁶^ORCID,Varsanyi Balázs⁴⁷^ORCID,Weleber Richard G.⁴⁸^ORCID,Zobor Ditta⁴⁹⁵⁰^ORCID,Stingl Katarina⁵¹⁵²,Wissinger Bernd¹^ORCID,Kohl Susanne¹^ORCID

Affiliation:

1. Centre for Ophthalmology, Institute for Ophthalmic Research University of Tübingen Tübingen Germany

2. Department of Ophthalmology University Hospital Lund Lund Sweden

3. Sorbonne Université INSERM, CNRS, Institut de la Vision Paris France

4. CHNO des Quinze‐Vingts Centre de Référence Maladies Rares REFERET, and INSERM‐DGOS CIC1423 Paris France

5. Department of Genetics & Genomics Instituto de Investigación Sanitaria ‐ Fundación Jiménez Díaz University Hospital ‐ Universidad Autónoma de Madrid (IIS‐FJD, UAM) Madrid Spain

6. Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII Madrid Spain

7. Department of Pathology and Histology, Faculty of Medicine Al‐Quds University Eastern Jerusalem Palestine

8. Clinical Genetics Service and South Tyrol Coordination Center for Rare Diseases, Department of Pediatrics Regional Hospital of Bolzano Bolzano Italy

9. Retina Foundation of the Southwest Dallas Texas USA

10. Genetique Medicale, CHU Paris Nord Hopital Jean Verdier Bondy Cedex France

11. National Eye Institute/NEI Bethesda Maryland USA

12. National Reference Centre for Inherited Sensory Diseases, Institute for Neurosciences of Montpellier (INM) University of Montpellier, INSERM Montpellier France

13. Department of Ophthalmology and Visual Sciences, Kellogg Eye Center University of Michigan Ann Arbor Michigan USA

14. Unitat de Distròfies Hereditàries de Retina Hospital Sant Joan de Déu Barcelona Esplugues de Llobregat Spain

15. Department of Biomolecular Medicine, Center for Medical Genetics Ghent University and Ghent University Hospital Ghent Belgium

16. CARGO, Hôpitaux Universitaires de Strasbourg Strasbourg France

17. U‐1112, Inserm, Faculté de Médecine Université de Strasbourg Strasbourg France

18. Molecular Biology Laboratory Scientific Institute IRCCS E. Medea Bosisio Parini Lecco Italy

19. Department of Medical Biosciences/Medical and Clinical Genetics University of Umea Umea Sweden

20. The University of Leicester Ulverscroft Eye Unit Leicester Royal Infirmary Leicester UK

21. Department of Ophthalmology, Perelman School of Medicine, Scheie Eye Institute University of Pennsylvania Philadelphia Pennsylvania USA

22. Department of Ophthalmology University of Regensburg Regensburg Germany

23. Institute of Human Genetics Medical University of Innsbruck Innsbruck Austria

24. Zentrum für Seltene Netzhauterkrankungen, AugenZentrum Siegburg MVZ Augenärztliches Diagnostik‐ und Therapiecentrum Siegburg GmbH Siegburg Germany

25. RetinaScience Bonn 53192 Germany

26. Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University and General University Hospital in Prague Prague Czech Republic

27. Department of Ophthalmology, First Faculty of Medicine Charles University and General University Hospital in Prague Prague Czech Republic

28. Department of Ophthalmology Justus‐Liebig University Giessen Giessen Germany

29. Department of Ophthalmology Universitaetsklinikum Bonn Bonn Germany

30. Genetica Molecular‐Edifici Docent Hospital Sant Joan de Deu Esplugues‐Barcelona Spain

31. Department of Ophthalmology, Otorhinolaryngology, and Head and Neck Surgery, School of Medicine of Ribeirão Preto University of São Paulo Ribeirão Preto Brazil

32. National Reference Centre for Inherited Sensory Diseases, Montpellier University Hospital University of Montpellier Montpellier France

33. Sensgene Care Network France

34. INRET Clínica e Centro de Pesquisa IEP Santa Casa Belo Horizonte Belo Horizonte MG Brazil

35. Department of Ophthalmology University Hospital of Larissa Mezourlo Larissa Greece

36. Department of Human Genetics, Amsterdam UMC University of Amsterdam Amsterdam The Netherlands

37. Centre for Medical Genetics University Hospital Brussels Brussels Belgium

38. Augenarztpraxis am Stadttheater Freiburg Germany

39. Augenarztpraxis Regensburg Regensburg Germany

40. Department of Ophthalmology, National Eye Clinic Glostrup Hospital Glostrup Denmark

41. University Eye Hospital Ludwig Maximilians University Munich Germany

42. Scientific Institute, IRCCS Eugenio Medea Pediatric Ophthalmology Unit Bosisio Parini Lecco Italy

43. Strabismus and Pediatric Ophthalmology Private Practice Ankara Turkey

44. Center for Ocular Regenerative Therapy, School of Medicine University of California Davis Sacramento USA

45. Center for Genetic Eye Diseases, Cole Eye Institute Cleveland Clinic Foundation Cleveland Ohio USA

46. Department of Ophthalmology, Pathology and Cell Biology, College of Physicians and Surgeons, Columbia Stem Cell Initiative Columbia University New York City New York USA

47. Department of Ophthalmology, Medical School University of Pécs and Ganglion Medical Center, Pécs Pécs Hungary

48. Oregon Health & Science University Ophthalmic Genetics Service of the Casey Eye Institute 515 SW Campus Drive 97239 Portland Oregon USA

49. Centre for Ophthalmology, Institute for Ophthalmic Research University Hospital Tübingen Tübingen Germany

50. Department of Ophthalmology Semmelweis University Budapest Budapest Hungary

51. Center for Ophthalmology, University Eye Hospital University of Tübingen Tübingen Germany

52. Center for Rare Eye Diseases University of Tübingen Tübingen Germany

Funder

Deutsche Forschungsgemeinschaft

Foundation Fighting Blindness

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24371

Reference133 articles.

1. Novel causative variants in patients with achromatopsia

2. Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

3. CNGA3 mutations in two United Arab Emirates families with achromatopsia;Ahuja Y.;Molecular Vision,2008

4. Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2)

5. Mutation of ATF6 causes autosomal recessive achromatopsia

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