Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity

Author:

Holt Richard1,Goudie David2,Verde Alejandra Damián34,Gardham Alice5,Ramond Francis6,Putoux Audrey78,Sarkar Ajoy9,Clowes Virginia5,Clayton-Smith Jill1011,Banka Siddharth1011,Cortazar Galarza Laura12,Thuret Gilles13,Ubeda Erviti Marta12,Zurutuza Ibarguren Ane14,Sáez Villaverde Raquel15,Tamayo Durán Alejandra34,Ayuso Carmen34,Bax Dorine A1,Plaisancie Julie1617,Corton Marta34,Chassaing Nicolas1617,Calvas Patrick1617,Ragge Nicola K118

Affiliation:

1. Faculty of Health and Life Sciences, Oxford Brookes University, UK

2. East of Scotland Regional Genetics Service, Ninewells Hospital, Dundee, UK

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

4. Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain

5. North West Thames Regional Genetics Service, Northwick Park and St Mark’s Hospital, London, UK

6. Service de Génétique Clinique et Biologique, CHU de Saint-Etienne, France

7. Hospices Civils de Lyon, Service de Génétique, Groupement Hospitalier Est, Lyon, France

8. Équipe GENDEV, Centre de Recherche en Neurosciences de Lyon, INSERM U1028 CNRS UMR5292, Université Claude Bernard Lyon 1, Lyon, France

9. Department of Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK

10. Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK

11. Manchester Centre for Genomic Medicine, Saint Mary’s Hospital, Manchester, UK

12. Department of Pediatric Ophthalmology, Hospital Universitario Donostia, Donostia-San Sebastián, Spain

13. Department of Ophthalmology, St Etienne University Hospital, Saint-Etienne, France

14. Department of Ophthalmology, Hospital Universitario Donostia, Donostia-San Sebastián, Spain

15. Department of Genetics, Hospital Universitario Donostia, Donostia-San Sebastián, Spain

16. Department of Medical Genetics, Purpan University Hospital, Toulouse, France

17. Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, Site Constitutif, Centre Hospitalier Universitaire (CHU) de Toulouse, France

18. West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK

Funder

Baillie Gifford

MACS

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

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