|
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Stickler syndrome, type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Stickler syndrome, type 1
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
|
Stickler syndrome, type 1
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Stickler syndrome, type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene.
|
1358786 |
1992 |
|
Stickler syndrome, type 1
|
0.800 |
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, type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Linkage analysis with restriction fragment length polymorphisms for the gene for type II procollagen (COL2A1) was carried out in a family with the Stickler syndrome, or arthro-ophthalmopathy, an autosomal dominant disorder that affects the eyes, ears, joints, and skeleton.
|
1677770 |
1991 |
|
Stickler syndrome, type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Linkage analysis with restriction fragment length polymorphisms for the gene for type II procollagen (COL2A1) was carried out in a family with the Stickler syndrome, or arthro-ophthalmopathy, an autosomal dominant disorder that affects the eyes, ears, joints, and skeleton.
|
1677770 |
1991 |
|
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We have found crossovers between the disease locus and COL2A1 in 2 families with Stickler syndrome.
|
1683158 |
1991 |
|
Stickler syndrome, type 1
|
0.800 |
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, type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
In a third AO family, however, recombination between AO and COL2A1 occurred in at least one meiosis, and the data were inconclusive with respect to linkage.
|
2573273 |
1989 |
|
Stickler syndrome, type 1
|
0.800 |
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, type 1
|
0.800 |
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, type 1
|
0.800 |
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, type 1
|
0.800 |
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, type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia.
|
7977371 |
1994 |
|
Stickler syndrome, type 1
|
0.800 |
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, type 1
|
0.800 |
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, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The mutation is the fourth mutation in the COL2A1 gene shown to cause the Stickler syndrome.
|
8406454 |
1993 |
|
Stickler syndrome, type 1
|
0.800 |
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, type 1
|
0.800 |
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, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Null-allele mutations in the COL2A1 gene led to a typical phenotype of Stickler syndrome.
|
10486316 |
1999 |
|
Stickler syndrome, type 1
|
0.800 |
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, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These data confirm that type 1 Stickler syndrome is caused by mutations in the gene encoding type II collagen (COL2A1).
|
10729292 |
2000 |
|
Stickler syndrome, type 1
|
0.800 |
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 |