Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene

Author:

Felden Julia1ORCID,Baumann Britta1,Ali Manir2ORCID,Audo Isabelle3ORCID,Ayuso Carmen4,Bocquet Beatrice5,Casteels Ingele6,Garcia‐Sandoval Blanca7,Jacobson Samuel G.8,Jurklies Bernhard9,Kellner Ulrich10ORCID,Kessel Line1112,Lorenz Birgit13,McKibbin Martin2,Meunier Isabelle5,Ravel Thomy14,Rosenberg Thomas1112,Rüther Klaus15,Vadala Maria16,Wissinger Bernd1,Stingl Katarina17,Kohl Susanne1

Affiliation:

1. Institute for Ophthalmic Research, Centre for Ophthalmology, University TuebingenTuebingen Germany

2. Section of Ophthalmology and Neuroscience, Leeds Institute of Medical Research at St. James's University Hospital, University of LeedsLeeds England

3. Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institute de la Vision/ CHNO des Quinze‐Vingts, DHU Sight Restore, INSERM‐DHOSParis France

4. University Hospital Fundación Jiménez Díaz/Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIIIMadrid Spain

5. Centre de Référence Maladies Sensorielles Génétiques, Hôpital Gui de Chauliac; Montpellier University and INSERM U1051, Institute for Neurosciences of MontpellierMontpellier France

6. Department of OphthalmologyUniversity Hospitals LeuvenLeuven Belgium

7. Department of OphthalmologyFundación Jimenez Diaz University HospitalMadrid Spain

8. Scheie Eye Institute, University of PennsylvaniaPhiladelphia Pennsylvania USA

9. Helios Clinics WuppertalWuppertal Germany

10. Rare Retinal Disease Center, AugenZentrum Siegburg, MVZ ADTC Siegburg GmbH, Europaplatz 3Siegburg Germany

11. The National Eye Clinic, Rigshospitalet, Kennedy CenterGlostrup Denmark

12. Department of Clinical MedicineUniversity of Copenhagen Denmark

13. Department of OphthalmologyJustus‐Liebig‐University GiessenGiessen Germany

14. Center for Human Genetics, University Hospitals Leuven, University of LeuvenLeuven Belgium

15. Augenarztpraxis, Dorotheenstrasse 56Berlin Germany

16. Ophthalmology Institute, Dipartimento di Biomedicina, Neuroscienze e Diagnostica Avanzata (BiND)Università degli Studi di Palermo

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

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference39 articles.

1. Dark‐adaptation functions in molecularly confirmed achromatopsia and the implications for assessment in retinal therapy trials;Aboshiha J.;Investigative Opthalmology & Visual Science,2014

2. A method and server for predicting damaging missense mutations;Adzhubei I. A.;Nature Methods,2010

3. Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2);Aligianis I. A.;Journal of Medical Genetics,2002

4. Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration;Bryant L.;Clinical Ophthalmology,2018

5. Analysis of canonical and non‐canonical splice sites in mammalian genomes;Burset M.;Nucleic Acid Research; a Journal of Science and its Applications,2000

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