UCL logo

UCL Discovery

UCL home » Library Services » Electronic resources » UCL Discovery

Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3)

Arno, G; Holder, GE; Chakarova, C; Kohl, S; Pontikos, N; Fiorentino, A; Plagnol, V; ... UK Inherited Retinal Disease Consortium, .; + view all (2016) Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3). JAMA Ophthalmology , 134 (8) pp. 924-927. 10.1001/jamaophthalmol.2016.1543. Green open access

[img]
Preview
Text
Arno_Recessive_Retinopathy.pdf - ["content_typename_Accepted version" not defined]

Download (10MB) | Preview

Abstract

IMPORTANCE: 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. OBSERVATIONS: 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. CONCLUSIONS AND RELEVANCE: 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.

Type: Article
Title: Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3)
Open access status: An open access version is available from UCL Discovery
DOI: 10.1001/jamaophthalmol.2016.1543
Publisher version: http://dx.doi.org/10.1001/jamaophthalmol.2016.1543
Language: English
Additional information: Copyright © 2016 American Medical Association. All rights reserved.
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences > Genetics, Evolution and Environment
URI: http://discovery.ucl.ac.uk/id/eprint/1499793
Downloads since deposit
76Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item