|
Achromatopsia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The present study reports five novel mutations in the CNGB3 gene, and thus broadens the spectrum of probably pathogenic mutations associated with ACHM.
|
25558176 |
2014 |
|
Achromatopsia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The cone mosaics in eyes with CNGA3 and CNGB3 variants are severely disrupted; the cone mosaics in patients with GNAT2-associated ACHM; however, have been reported to show a contiguous pattern in adaptive optics (AO) retinal images.
|
27718025 |
2017 |
|
Achromatopsia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations in the gene encoding the CNGB3 subunit have been linked to achromatopsia in humans.
|
12815043 |
2003 |
|
Achromatopsia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To describe the clinical phenotype, with emphasis on the electrophysiological findings, of patients with autosomal recessive rod monochromacy (RM) and defined mutations in the CNGA3/CNGB3 genes.
|
12187429 |
2002 |
|
Achromatopsia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the genes encoding the CNGA3 and CNGB3 subunits of the cyclic nucleotide-gated (CNG) channel of cone photoreceptors have been associated with autosomal recessive achromatopsia.
|
14715947 |
2004 |
|
Achromatopsia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, the CNGB3 mutation p.T383fsX is a predominant mutation, results from a founder effect, and is responsible for the ACHM in the original clinical report of UPD 14.
|
17265047 |
2007 |
|
Achromatopsia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
|
31544997 |
2020 |
|
Achromatopsia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3.
|
12140185 |
2002 |
|
Achromatopsia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in CNGA3 and CNGB3 are associated with achromatopsia, a rare autosomal recessive retinal disorder.
|
29499183 |
2018 |
|
Achromatopsia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in CNGA3 and CNGB3, the genes encoding the subunits of the tetrameric cone photoreceptor cyclic nucleotide-gated ion channel, cause achromatopsia, a congenital retinal disorder characterized by loss of cone function.
|
30418171 |
2018 |
|
Achromatopsia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis revealed her to be homozygous for the common CNGB3 achromatopsia mutation, 1148delC (Thr383fs).
|
15161866 |
2004 |
|
Achromatopsia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Unrelated patients with achromatopsia, macular degeneration with onset under age 50 years, cone degeneration or dysfunction, cone-rod degeneration, or macular malfunction were screened for mutations in the three genes known to be associated with achromatopsia: the GNAT2 gene encoding the alpha subunit of cone transducin and the CNGA3 and CNGB3 genes encoding the alpha and beta subunits of the cone cGMP-gated cation channel.
|
15712225 |
2005 |
|
Achromatopsia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in both subunits are associated with achromatopsia and progressive cone dystrophy, with mutations in CNGB3 alone accounting for 50% of all known cases of achromatopsia.
|
19767295 |
2009 |
|
Achromatopsia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, mutations in the CNGB3 gene are responsible for approximately 50% of all patients with achromatopsia.
|
15657609 |
2005 |
|
Achromatopsia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.
|
10958649 |
2000 |
|
Achromatopsia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The patients presented with a clinical picture typical for congenital achromatopsia and there was no significant difference in the phenotype of subjects with either CNGA3 or CNGB3 mutations based on standard ophthalmological examination.
|
16319819 |
2005 |
|
Achromatopsia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genetic defects in CNGA3 and CNGB3, encoding two structurally related subunits of cone CNG channels, lead to achromatopsia (ACHM).
|
26407004 |
2015 |
|
Achromatopsia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.
|
20454696 |
2010 |
|
Achromatopsia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here, we present a comprehensive spectrum of CNGB3 mutations and their prevalence in a cohort of 1074 independent families clinically diagnosed with achromatopsia.
|
28795510 |
2017 |
|
Achromatopsia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
CNGB3 mutations cause a channelopathy that results in impaired cone function manifesting achromatopsia.
|
17652762 |
2007 |
|
Achromatopsia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genetic testing performed at Carver lab at the University of Iowa confirmed a diagnosis of achromatopsia with identical mutations in the CNGB3 gene.
|
24664743 |
2014 |
|
Achromatopsia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Two clinical trials are under way: one to better characterize humans with achromatopsia and another to study a ciliary neurotrophic factor (CNTF) implant as a treatment for patients with the CNGB3 mutation.
|
26196097 |
2015 |
|
Achromatopsia 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
This report describes the results of electroretinography in two siblings with CNGB3-associated achromatopsia.
|
28929832 |
2018 |
|
Achromatopsia 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
An AAV vector expressing a human CNGB3 gene driven by the PR1.7 promoter rescued cone function in the mouse model of achromatopsia.
|
26603570 |
2016 |
|
Achromatopsia 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Safety and Biodistribution Evaluation in CNGB3-Deficient Mice of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia.
|
27003752 |
2016 |