Missense mutation in the gene encoding the α subunit of rod transducin in the Nougaret form of congenital stationary night blindness

@article{Dryja1996MissenseMI,
  title={Missense mutation in the gene encoding the $\alpha$ subunit of rod transducin in the Nougaret form of congenital stationary night blindness},
  author={T. P. Dryja and Lauri B. Hahn and T. Todd Reboul and B. Arnaud},
  journal={Nature Genetics},
  year={1996},
  volume={13},
  pages={358-360}
}
Patients with congenital stationary night blindness enjoy normal daytime vision, which is mediated by cone photoreceptors, but are blind when ambient light is so dim that a normal individual would utilize only rod photoreceptors to see without colour discrimination. The disease is genetically heterogeneous. One form of dominantly inherited congenital night blindness is eponymously named ‘Nougaret’ because pedigree analysis reveals that the disease originated in Jean Nougaret (1637–1719), a… 
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Loss of the Effector Function in a Transducin-α Mutant Associated with Nougaret Night Blindness*
TLDR
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Transgenic mice carrying the H258N mutation in the gene encoding the β‐subunit of phosphodiesterase‐6 (PDE6B) provide a model for human congenital stationary night blindness
TLDR
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Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy
TLDR
It is confirmed that the phenotype and the mode of inheritance associated with GNAT1 variants can vary from autosomal dominant, autosomal recessive congenital stationary night blindness to autosome recessive rod-cone dystrophy.
Phototransduction in transgenic mice after targeted deletion of the rod transducin α-subunit
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Most if not all rods use a single transducin type in phototransduction, as expected for a cone, but had a rod-like spectral sensitivity and flash response kinetics that were slow, even for rods.
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References

SHOWING 1-10 OF 36 REFERENCES
Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.
TLDR
It is concluded that the absence or paucity of functional cGMP-gated cation channels in the plasma membrane is deleterious to rod photoreceptors and is an uncommon cause of RP.
Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness
TLDR
It is speculated that the rod dysfunction in the patient with congenital stationary night blindness is due to an abnormal, continuous activation of transducin by mutant opsin molecules in photoreceptor outer segments.
Autosomal recessive retinitis pigmentosa caused by mutations in the α subunit of rod cGMP phosphodiesterase
TLDR
PDEA is the seventh RP gene identified, highlighting the extensive genetic heterogeneity of the disorder and encouraging further investigation into the role of other members of the phototransduction cascade in RP.
Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa.
TLDR
A screen of 92 unrelated patients with autosomal recessive retinitis pigmentosa for defects in the human homologue of the beta subunit of rod cGMP phosphodiesterase identified seven different mutations that cosegregate with the disease.
Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness.
TLDR
Within the candidate gene encoding the β–subunit of rod photoreceptor cGMP–specific phosphodiesterase (βPDE), a heterozygous C to A transversion in exon 4 is identified, predicting a His258Asp change in the polypeptide.
Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa.
TLDR
It is unlikely that mutations in the PDE-g gene are a common cause of any of the forms of retinal degeneration or dysfunction so far examined, and the single-strand conformation polymorphism technique was used.
Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation.
TLDR
The apparent preservation of functioning rods despite extensive and lifelong night-blindness in this kindred is inconsistent with one current hypothesis that chronic rod activation from constitutively active mutant rhodopsin necessarily contributes significantly to photoreceptor demise in human retinal dystrophies.
Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.
TLDR
The authors found one instance of a mutation in an affected patient that was absent in both unaffected parents (i.e., a new germ-line mutation), indicating that some "isolate" cases of retinitis pigmentosa carry a mutation of the rhodopsin gene.
Rhodopsin and the electrical activity of the retina in congenital night blindness.
TLDR
Analysis of the restdts suggests that both the a-toave of the ERG and the light rise in the standing potential originate proximal to the outer segments of the receptors, suggesting the neural transmission pathways as the locus of disturbance in this anomaly.
The drosophila dgq gene encodes a Gα protein that mediates phototransduction
TLDR
Results indicate that DGq1 mediates the stimulation by light-activated rhodopsin of the norpA-encoded phospholipase C in the visual transduction cascade.
...
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2
3
4
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