|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A variant of Stickler syndrome, caused by mutations in exon 2 of COL2A1, may present in families with all of the ocular findings and no clinically identifiable extraocular findings associated with Stickler syndrome.
|
12429250 |
2002 |
|
Stickler syndrome (disorder)
|
0.200 |
Biomarker
|
disease |
BEFREE |
Genetic investigations were also performed, considering three candidate loci for Stickler syndrome and Wagner syndrome (COL2A1, COL11A1, WGN1).
|
11450497 |
2001 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This rapid new test for COL2A1 nonsense mutations is of particular clinical importance to Stickler syndrome families, where the identification of individuals who are at risk of this potentially preventable form of blindness will allow them to undergo regular ophthalmological surveillance and preventative or early ameliorative treatment.
|
10706362 |
2000 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Here we characterize novel dominant negative mutations in COL2A1 that result in Stickler syndrome.
|
11007540 |
2000 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
All COL2A1 mutations known to cause Stickler syndrome result in the formation of a premature termination codon within the type-II collagen gene.
|
10982970 |
2000 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Null-allele mutations in the COL2A1 gene led to a typical phenotype of Stickler syndrome.
|
10486316 |
1999 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
40:433-455, 1965] and resembled the phenotype of the previously reported individuals or families with Stickler syndrome in which a dominant mutation in the COL2A1 gene has been identified.
|
9805127 |
1998 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred.
|
8737653 |
1996 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Families with Sticklers syndrome type 1 have a characteristic congenital vitreous anomaly and are linked without recombination to markers at the COL2A1 locus.
|
8872475 |
1996 |
|
Stickler syndrome (disorder)
|
0.200 |
Biomarker
|
disease |
BEFREE |
However, both disorders have associated retinal pigment epithelial changes, poor night vision, visual field defects, and abnormal electroretinographic findings, which are not found in families with COL2A1-associated Stickler syndrome.
|
7748141 |
1995 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We report what we believe is the first premature stop codon in the globular C-propeptide region encoded by the COL2A1 gene, in a family affected with Stickler syndrome.
|
7487609 |
1995 |
|
Stickler syndrome (disorder)
|
0.200 |
Biomarker
|
disease |
BEFREE |
We have performed linkage analysis in a large Dutch kindred with a Stickler syndrome phenotype that was unlinked to COL2A1.
|
7833911 |
1994 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Since mutations producing premature termination signals have not previously been detected in genes for fibrillar collagens, the results raise the possibility that such mutations in the COL2A1 gene are a common cause of AO.
|
8434604 |
1993 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Comparison with previously reported mutations suggested that mutations introducing premature termination codons in the COL2A1 gene are a frequent cause of the Stickler syndrome, but mutations in the COL2A1 gene that replace glycine codons with codons for bulkier amino acid can produce a broad spectrum of disorders that range from lethal chondrodysplasias to a syndrome involving only ocular tissues, similar to the syndrome in the family originally described by Wagner in 1938.
|
8317498 |
1993 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The mutation is the fourth mutation in the COL2A1 gene shown to cause the Stickler syndrome.
|
8406454 |
1993 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
No basic defect has been found in patients with Kniest dysplasia, whereas Stickler dysplasia is one of four chondrodysplasias for which mutations of type II procollagen gene (COL2A1) have been identified.
|
7981752 |
1993 |
|
Stickler syndrome (disorder)
|
0.200 |
Biomarker
|
disease |
BEFREE |
Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene.
|
1358786 |
1992 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Four affected members of a family with Stickler syndrome were found to have a single base-pair deletion resulting in a translational frameshift in exon 40 of the procollagen II (COL2A1) gene on chromosome 12.
|
1444917 |
1992 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).
|
1677770 |
1991 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We have found crossovers between the disease locus and COL2A1 in 2 families with Stickler syndrome.
|
1683158 |
1991 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Amplification of the COL2A1 3' variable region used for segregation analysis in a family with the Stickler syndrome.
|
1977683 |
1990 |
|
Stickler syndrome (disorder)
|
0.200 |
Biomarker
|
disease |
BEFREE |
Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome.
|
2319589 |
1990 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Genetic linkage studies in two families with the Stickler syndrome have been performed using restriction fragment length polymorphisms associated with the structural gene for type II collagen, COL2A1.
|
2896625 |
1987 |
|
Stickler syndrome (disorder)
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
|
|
|