Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy-Reference-Cited by-同舟云学术

Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy

Published:2019-02-14 Issue:5 Volume:40 Page:578-587
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Silva Raquel S.¹²^ORCID,Arno Gavin¹²^ORCID,Cipriani Valentina¹²³⁴^ORCID,Pontikos Nikolas¹²⁴^ORCID,Defoort-Dhellemmes Sabine⁵,Kalhoro Ambreen²,Carss Keren J.⁶⁷,Raymond F. Lucy⁷⁸,Dhaenens Claire Marie⁹,Jensen Hanne¹⁰,Rosenberg Thomas¹⁰,van Heyningen Veronica¹²^ORCID,Moore Anthony T.¹²¹¹,Puech Bernard⁵,Webster Andrew R.¹²

Affiliation:

1. UCL Institute of Ophthalmology, University College London; London United Kingdom

2. Department of Genetics; Moorfields Eye Hospital; London United Kingdom

3. Department of Clinical Pharmacology; William Harvey Research Institute, Queen Mary University of London; United Kingdom

4. Department of Genetics; UCL Genetics Institute, Evolution and Environment; London United Kingdom

5. Exploration de la Vision et Neuro-Ophtalmologie, Centre Hospitalier Universitaire; Lille France

6. Department of Haematology; University of Cambridge; Cambridge United Kingdom

7. NIHR BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus; Cambridge United Kingdom

8. Department of Medical Genetics; Cambridge Institute for Medical Research, University of Cambridge; Cambridge United Kingdom

9. Biochemistry and Molecular Biology Department-UF Génopathies; CHU Lille, Univ Lille, Inserm UMR-S 1172, F-59000; Lille France

10. Department of Ophthalmology; The Kennedy Eye Clinic, Rigshospitalet Glostrup; Glostrup Denmark

11. Department of Ophthalmology; UCSF School of Medicine; San Francisco CA

Funder

Fight for Sight PhD studentship

Fight for Sight Early Career Investigator Award

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23715/fullpdf

Reference34 articles.

1. Prdm13 forms a feedback loop with Ptf1a and is required for glycinergic amacrine cell genesis in the Xenopus Retina;Bessodes;Neural Development,2017

2. North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene;Bowne;Molecular Vision,2016

3. 2018 Identifying core biological processes distinguishing human eye tissues with precise systems-level gene expression analyses and weighted correlation networks Human Molecular Genetics 27 19 https://doi.org/10.1093/hmg/ddy239

4. Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease;Carss;The American Journal of Human Genetics,2017

5. Prdm13 mediates the balance of inhibitory and excitatory neurons in somatosensory circuits;Chang;Developmental Cell,2013

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3. Disease-causing mutations in genes encoding transcription factors critical for photoreceptor development;Frontiers in Molecular Neuroscience;2023-04-27

4. New Noncoding Base Pair Mutation at the Identical Locus as the Original NCMD/MCDR1 in a Mexican Family, Suggesting a Mutational Hotspot;Journal of VitreoRetinal Diseases;2023-01

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