Méjécase, C;
Laurent-Coriat, C;
Mayer, C;
Poch, O;
Mohand-Saïd, S;
Prévot, C;
Antonio, A;
... Zeitz, C; + view all
(2016)
Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.
PLoS One
, 11
(12)
, Article e0168271. 10.1371/journal.pone.0168271.
Preview |
Text (Published article)
journal.pone.0168271.pdf - Published Version Download (1MB) | Preview |
![[thumbnail of Supplementary files]](https://discovery-pp.ucl.ac.uk/style/images/fileicons/archive.png) |
Archive (Supplementary files)
4448711.zip Download (140kB) |
Abstract
GNAT1, encoding the transducin subunit Gα, is an important element of the phototransduction cascade. Mutations in this gene have been associated with autosomal dominant and autosomal recessive congenital stationary night blindness. Recently, a homozygous truncating GNAT1 mutation was identified in a patient with late-onset rod-cone dystrophy. After exclusion of mutations in genes underlying progressive inherited retinal disorders, by targeted next generation sequencing, a 32 year-old male sporadic case with severe rod-cone dystrophy and his unaffected parents were investigated by whole exome sequencing. This led to the identification of a homozygous nonsense variant, c.963C>A p.(Cys321*) in GNAT1, which was confirmed by Sanger sequencing. The mother was heterozygous for this variant whereas the variant was absent in the father. c.963C>A p.(Cys321*) is predicted to produce a shorter protein that lacks critical sites for the phototransduction cascade. Our work confirms that the phenotype and the mode of inheritance associated with GNAT1 variants can vary from autosomal dominant, autosomal recessive congenital stationary night blindness to autosomal recessive rod-cone dystrophy.
| Type: | Article |
|---|---|
| Title: | Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1371/journal.pone.0168271 |
| Publisher version: | https://doi.org/10.1371/journal.pone.0168271 |
| Language: | English |
| Additional information: | Copyright: © 2016 Méjécase et al. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
| Keywords: | Adult, Codon, Nonsense, Cone-Rod Dystrophies, DNA Mutational Analysis, Heterotrimeric GTP-Binding Proteins, High-Throughput Nucleotide Sequencing, Homozygote, Humans, Male, Retinitis Pigmentosa |
| UCL classification: | UCL 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 |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10054209 |
Archive Staff Only
 |
View Item |
