|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Electroretinography responses of both patients were dominated by short-wavelength-sensitive mechanisms, with no detectable rod function, similar to the ERG responses of individuals with enhanced S-cone syndrome (ESCS) due to NR2E3 mutations.
|
27732723 |
2016 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cone Vision Changes in the Enhanced S-Cone Syndrome Caused by NR2E3 Gene Mutations.
|
29971438 |
2018 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
In 94% of a cohort of ESCS probands we found mutations in NR2E3 (also known as PNR), which encodes a retinal nuclear receptor recently discovered to be a ligand-dependent transcription factor.
|
10655056 |
2000 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.
|
27032803 |
2016 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.
|
18294254 |
2008 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in NR2E3 typically lead to recessive enhanced S-cone syndrome (ESCS), where affected individuals show higher sensitivity to short wavelength light and early onset rod dysfunction.
|
30466340 |
2019 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This data coincides with studies in humans showing that mutations in Nr2e3 result in a unique type of retinal degeneration known as enhanced S-cone syndrome, where patients have a 30-fold increase in S-cone sensitivity compared to normal.
|
11487564 |
2001 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The patients with ESCS and GFS and 9 of the 20 unrelated patients with CPRD had mutations in the NR2E3 gene.
|
12963616 |
2003 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in NR2E3 are associated with enhanced S-cone syndrome and related retinal phenotypes that reveal characteristic excess of S-cone function.
|
19898638 |
2009 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Other mutations of NR2E3 have previously been shown to cause autosomal recessive enhanced S-cone syndrome, a specific retinal phenotype.
|
17564971 |
2007 |
|
Enhanced S-Cone Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration.
|
11773633 |
2002 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These results showed that NR2E3 mutations localized in LBD induce ESCS disease without affecting inhibitory activity as recorded in vitro.
|
17438525 |
2007 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.
|
19006237 |
2009 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this study is to report the ophthalmic features of a 25-year-old Portuguese male with a typical ESCS phenotype and a novel homozygous NR2E3 mutation.
|
20725840 |
2011 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The subject (Patient A) with no detected NR2E3 mutation had features not usually associated with ESCS, in particular moderate rod photoreceptor function in peripheral retina and an abnormally thick retinal nerve fibre layer.
|
15459973 |
2004 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The subject (Patient A) with no detected NR2E3 mutation had features not usually associated with ESCS, in particular moderate rod photoreceptor function in peripheral retina and an abnormally thick retinal nerve fibre layer.
|
15459973 |
2004 |
|
Enhanced S-Cone Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.
|
19006237 |
2009 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
In 94% of a cohort of ESCS probands we found mutations in NR2E3 (also known as PNR), which encodes a retinal nuclear receptor recently discovered to be a ligand-dependent transcription factor.
|
10655056 |
2000 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.
|
19898638 |
2009 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The subject (Patient A) with no detected NR2E3 mutation had features not usually associated with ESCS, in particular moderate rod photoreceptor function in peripheral retina and an abnormally thick retinal nerve fibre layer.
|
15459973 |
2004 |
|
Enhanced S-Cone Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We studied the postmortem retina of an ESCS patient homozygous for NR2E3 R311Q.
|
11773633 |
2002 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The authors previously reported details on enhanced S-cone syndrome (ESCS) in a 23-year-old male patient with a homozygous NR2E3 mutation (p.Q350X) who developed large bilateral macular retinoschisis.
|
26878455 |
2016 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome.
|
27522502 |
2016 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.
|
11071390 |
2000 |