|
Cone-Rod Dystrophy 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our study uncovers an additional CRD gene and assigns the CRD phenotype to a variant of ARL3.
|
31743939 |
2019 |
|
Cone-Rod Dystrophy 2
|
0.800 |
Biomarker
|
disease |
BEFREE |
Exome sequencing of the proband's affected daughter uncovered a heterozygous <i>CRX</i> deletion [NM_000554.4: CRX: c.(100 + 1_101-1)_(c.900 + 1_?)del] that segregated with the disease.<b>Conclusion</b>: An unusual familial cone-rod dystrophy phenotype was associated with heterozygous <i>CRX</i> deletion, a pathogenic variant that had a presumed mechanism of haploinsufficiency.
|
31743059 |
2019 |
|
Cone-Rod Dystrophy 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel CRX frameshift mutation causing cone-rod dystrophy in a Chinese family: A case report.
|
30095615 |
2018 |
|
Cone-Rod Dystrophy 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To characterize by multimodal approach the phenotype of patients from a 3 generations pedigree, affected by autosomal dominant cone-rod dystrophy (CRD), found to carry a novel pathogenic variant in the cone-rod homeobox-containing (CRX) gene.
|
30078014 |
2018 |
|
Cone-Rod Dystrophy 2
|
0.800 |
Biomarker
|
disease |
BEFREE |
CRX may be mutated in three forms of human blindness; Leber congenital amaurosis (LCA), cone-rod degeneration (CRD) and retinitis pigmentosa (RP).
|
29568065 |
2018 |
|
Cone-Rod Dystrophy 2
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands.
|
26992781 |
2016 |
|
Cone-Rod Dystrophy 2
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree.
|
26682157 |
2015 |
|
Cone-Rod Dystrophy 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutant alleles of the CRX gene have been associated with autosomal dominant Leber congenital amaurosis (LCA) and cone-rod dystrophy.
|
24001014 |
2015 |
|
Cone-Rod Dystrophy 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
R90W mice carry a substitution mutation in the CRX homeodomain, Arg90Trp, which is associated with dominant mild late-onset CoRD and recessive LCA.
|
24516401 |
2014 |
|
Cone-Rod Dystrophy 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Patients with pattern dystrophy (PD) were screened for mutations in PRPH2, BEST1, ELOVL4, CTRP5, and ABCA4; patients with cone-rod dystrophy (CRD) were screened for mutations in CRX, ABCA4, PRPH2, ELOVL4, and the c.2513G>A p.Arg838His variant in GUCY2D.
|
25082885 |
2014 |
|
Cone-Rod Dystrophy 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human CRX gene are associated with dominant inherited retinopathies Retinitis Pigmentosa (RP), Cone-Rod Dystrophy (CoRD), and Leber Congenital Amaurosis (LCA), of varying severity.
|
24888636 |
2014 |
|
Cone-Rod Dystrophy 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the cone-rod homeobox gene (CRX) are associated with cone-rod dystrophy (CORD), Leber congenital amaurosis (LCA), and, in rare cases, retinitis pigmentosa (RP).
|
22960069 |
2012 |
|
Cone-Rod Dystrophy 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This is in accordance with the theory that ataxin-7 interacts with CRX transcription, since it is known that mutations in the CRX gene cause cone-rod dystrophy.
|
19172503 |
2009 |
|
Cone-Rod Dystrophy 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Cone and cone-rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation.
|
18653602 |
2008 |
|
Cone-Rod Dystrophy 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel heterozygous complex mutation (c.816delCACinsAA) in CRX predicting the substitution of 27 C-terminal amino acids by 44 novel amino acids, thus abolishing the OTX tail, was identified in a 2-generation family finally diagnosed with cone-rod dystrophy (CRD), which was confirmed by 2CTP.
|
17320181 |
2007 |
|
Cone-Rod Dystrophy 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The four major causative genes involved in the pathogenesis of CRDs are ABCA4 (which causes Stargardt disease and also 30 to 60% of autosomal recessive CRDs), CRX and GUCY2D (which are responsible for many reported cases of autosomal dominant CRDs), and RPGR (which causes about 2/3 of X-linked RP and also an undetermined percentage of X-linked CRDs).
|
17270046 |
2007 |
|
Cone-Rod Dystrophy 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A 615delC mutation in the CRX gene was identified and found to cosegregate with cone-rod dystrophy.
|
15531334 |
2004 |
|
Cone-Rod Dystrophy 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A heterozygous Arg41Trp mutation in the CRX gene can produce cone-rod dystrophy in Japanese patients.
|
12819982 |
2003 |
|
Cone-Rod Dystrophy 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
As an example, we discover an unannotated Tf_Otx Pfam domain on the cone rod homeobox protein, which suggests a possible mechanism for how the V242M mutation on this protein causes cone-rod dystrophy.
|
12668763 |
2003 |
|
Cone-Rod Dystrophy 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
ERG and molecular genetic findings were consistent with the reclassification of this disease as an autosomal dominant cone-rod dystrophy (CRD) CONCLUSIONS: We report a novel CRX mutation causing autosomal dominant CRD.
|
12359607 |
2002 |
|
Cone-Rod Dystrophy 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in CRX, a photoreceptor-specific transcription factor, can cause Leber congenital amaurosis (LCA), cone-rod dystrophy (CORD), and retinitis pigmentosa (RP), all of which feature severe visual impairment.
|
11748859 |
2001 |
|
Cone-Rod Dystrophy 2
|
0.800 |
Biomarker
|
disease |
BEFREE |
Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7.
|
11580893 |
2001 |
|
Cone-Rod Dystrophy 2
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation.
|
10887186 |
2000 |
|
Cone-Rod Dystrophy 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The Ala196+1bp mutation was associated with an early-onset, severe form of cone-rod dystrophy similar to that described in the original CORD2 family (Evans et al., Arch Ophthalmol 1995;113:195-201).
|
10916183 |
2000 |
|
Cone-Rod Dystrophy 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Two point mutations of Crx, R41W and E80A, that cause cone-rod dystrophy in humans and lie within the homeodomain but outside the NLS did not disrupt the nuclear localization of Crx protein, but a R90W mutation of Crx that causes human Leber congenital amaurosis (LCA) and resides within the NLS resulted in the fusion protein localized in both nuclei and cytoplasm in majority (51% to 69%) of the transfected cells.
|
10967037 |
2000 |