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- Title
Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).
- Authors
Arno, Gavin; Holder, Graham E.; Chakarova, Christina; Kohl, Susanne; Pontikos, Nikolas; Fiorentino, Alessia; Plagnol, Vincent; Cheetham, Michael E.; Hardcastle, Alison J.; Webster, Andrew R.; Michaelides, Michel; UK Inherited Retinal Disease Consortium
- Abstract
<bold>Importance: </bold>Mutations in phototransduction and retinal signaling genes are implicated in many retinopathies. To our knowledge, GNB3 encoding the G-protein β subunit 3 (Gβ3) has not previously been implicated in human disease.<bold>Observations: </bold>In this brief report, whole-exome sequencing was conducted on a patient with distinct inherited retinal disease presenting in childhood, with a phenotype characterized by nystagmus, normal retinal examination, and mild disturbance of the central macula on detailed retinal imaging. This sequencing revealed a homozygous GNB3 nonsense mutation (c.124C>T; p.Arg42Ter). Whole-exome sequencing was conducted from April 2015 to July 2015.<bold>Conclusions and Relevance: </bold>Expressed in cone photoreceptors and ON-bipolar cells, Gβ3 is essential in phototransduction and ON-bipolar cell signaling. Knockout of Gnb3 in mice results in dysfunction of cone photoreceptors and ON-bipolar cells and a naturally occurring chicken mutation leads to retinal degeneration. Identification of further affected patients may allow description of the phenotypic and genotypic spectrum of disease associated with GNB3 retinopathy.
- Publication
JAMA Ophthalmology, 2016, Vol 134, Issue 8, p924
- ISSN
2168-6165
- Publication type
journal article
- DOI
10.1001/jamaophthalmol.2016.1543