Hyaloideoretinal degeneration of Wagner
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Next-generation sequencing and microarray analysis of 141 genes established a diagnosis of Wagner syndrome in this individual, by detection of an 11.7 kilobase (kb) deletion encompassing exon 8 of VCAN.
|
30055036 |
2018 |
Hyaloideoretinal degeneration of Wagner
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
NGS is then an effective screening tool for genetic diagnosis of Wagner disease, improving the chance of identifying all disease-causative variants as well as mosaic mutations in VCAN.
|
27667122 |
2017 |
Hyaloideoretinal degeneration of Wagner
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.
|
22739342 |
2013 |
Hyaloideoretinal degeneration of Wagner
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A family with Wagner syndrome with uveitis and a new versican mutation.
|
24174867 |
2013 |
Hyaloideoretinal degeneration of Wagner
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.
|
22739342 |
2013 |
Hyaloideoretinal degeneration of Wagner
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Wagner syndrome is associated with mutations in versican (VCAN), which encodes for a chondroitin sulfate proteoglycan.
|
23592912 |
2013 |
Hyaloideoretinal degeneration of Wagner
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
De novo splice mutation in the versican gene in a family with Wagner syndrome.
|
23571384 |
2013 |
Hyaloideoretinal degeneration of Wagner
|
0.700 |
Biomarker
|
disease |
BEFREE |
Beyond the structural role in the retinal-vitreous architecture, versican is also emerging as a pivotal mediator of the inflammatory response, supporting uveitis predisposition as a clinical manifestation of WS.
|
24174867 |
2013 |
Hyaloideoretinal degeneration of Wagner
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Among these, identification of a mutation in VCAN in a family with a complicated phenotype helped to finalize the clinical diagnosis as Wagner syndrome.
|
23462753 |
2013 |
Hyaloideoretinal degeneration of Wagner
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases.
|
23462753 |
2013 |
Hyaloideoretinal degeneration of Wagner
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features.
|
21738396 |
2011 |
Hyaloideoretinal degeneration of Wagner
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome.
|
19901218 |
2009 |
Hyaloideoretinal degeneration of Wagner
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Wagner syndrome maps to chromosome 5q13-q14 and is associated with mutations in CSPG2 encoding versican, a proteoglycan present in human vitreous.
|
19901218 |
2009 |
Hyaloideoretinal degeneration of Wagner
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Wagner syndrome (WGN1) is associated with mutations in versican (CSPG2) and snowflake vitreoretinal degeneration (SVD) with a mutation in a potassium channel (KCNJ13).
|
18309337 |
2008 |
Hyaloideoretinal degeneration of Wagner
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Clinical characterisation and molecular analysis of Wagner syndrome.
|
17035272 |
2007 |
Hyaloideoretinal degeneration of Wagner
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.
|
16877430 |
2006 |
Hyaloideoretinal degeneration of Wagner
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We investigated whether CSPG2/Versican was mutated in six Dutch families and one Chinese family with Wagner disease and in a family with ERVR.
|
16877430 |
2006 |
Hyaloideoretinal degeneration of Wagner
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Identification of the genetic defect in the original Wagner syndrome family.
|
16636652 |
2006 |
Hyaloideoretinal degeneration of Wagner
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.
|
16043844 |
2005 |
Hyaloideoretinal degeneration of Wagner
|
0.700 |
Biomarker
|
disease |
BEFREE |
Although the CSPG2 gene has been excluded as a candidate for causing Wagner syndrome, these data emphasize the necessity of further mutational screening in new families and careful functional characterization.
|
16043844 |
2005 |
Hyaloideoretinal degeneration of Wagner
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Genetic investigations were also performed, considering three candidate loci for Stickler syndrome and Wagner syndrome (COL2A1, COL11A1, WGN1).
|
11450497 |
2001 |
Hyaloideoretinal degeneration of Wagner
|
0.700 |
Biomarker
|
disease |
BEFREE |
CSPG2 is shown to lie within the critical region; however, analysis of the complete coding region of the mature peptide reveals no clear evidence that it is the gene underlying WGN1.
|
10198161 |
1999 |
Hyaloideoretinal degeneration of Wagner
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Hyaloideoretinal degeneration of Wagner
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Hyaloideoretinal degeneration of Wagner
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|