Overview
Gene (OMIM No.) |
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Function of gene/protein |
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Clinical phenotype (OMIM phenotype no.) |
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Inheritance |
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Ocular features |
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Visual function | CSNB
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Systemic features |
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Key investigations | CSNB
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Molecular diagnosis | Next generation sequencing
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Management | Ocular |
Therapies under research |
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Further information |
Additional information
GNAT1 missense variants are associated with stationary disease while nonsense variants are associated with progressive retinopathy [8].
References
- Molday RS, Moritz OL. Photoreceptors at a glance. Journal of Cell Science. 2015 Nov 15;128(22):4039–45
- Dryja TP, Hahn LB, Reboul T, Arnaud B. Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness. Nat Genet. 1996 Jul;13(3):358–60
- Szabo V, Kreienkamp H-J, Rosenberg T, Gal A. p.Gln200Glu, a putative constitutively active mutant of rod α-transducin (GNAT1) in autosomal dominant congenital stationary night blindness. Hum Mutat. 2007 Jul;28(7):741–2
- Naeem MA, Chavali VRM, Ali S, Iqbal M, Riazuddin S, Khan SN, et al. GNAT1 Associated with Autosomal Recessive Congenital Stationary Night Blindness. Invest Ophthalmol Vis Sci. 2012 Mar 13;53(3):1353
- Zeitz C, Méjécase C, Stévenard M, Michiels C, Audo I, Marmor MF. A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness. Biomed Res Int. 2018;2018:7694801
- Zeitz C, Robson AG, Audo I. Congenital stationary night blindness: An analysis and update of genotype–phenotype correlations and pathogenic mechanisms. Progress in Retinal and Eye Research. 2015 Mar;45:58–110
- Carrigan M, Duignan E, Humphries P, Palfi A, Kenna PF, Farrar GJ. A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration. Br J Ophthalmol. 2016 Apr;100(4):495–500
- Méjécase C, Laurent-Coriat C, Mayer C, Poch O, Mohand-Saïd S, Prévot C, et al. Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy. Janecke AR, editor. PLoS ONE. 2016 Dec 15;11(12):e0168271