|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Clinical examination of the family and linkage analysis using markers flanking COL2A1 and COL11A1, the known loci for Stickler syndrome; mutation screening of COL2A1; construction of splicing reporter minigenes and transfection into cultured cells; and RT-PCR analysis of reporter specific transcripts.
|
15671297 |
2005 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations.
|
30130436 |
2018 |
|
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 |
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 |
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 |
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
|
20513134 |
2010 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome.
|
12204008 |
2002 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
A p.R904C variant of the COL2A1 gene was found in a patient, who was accordingly diagnosed with Stickler syndrome.
|
30541462 |
2018 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation.
|
21777803 |
2011 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea.
|
26709265 |
2016 |
|
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 |
Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanisms.
|
17437277 |
2007 |
|
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 |
We developed a simple and noninvasive strategy for identifying the COL2A1 mutation using RNA from freshly isolated peripheral white blood cells and identified a new 3' splice site mutation in a Japanese family with Stickler syndrome.
|
21186996 |
2011 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
All of the patients had mutations in the COL2A1 gene and were diagnosed with Stickler syndrome.
|
28283280 |
2017 |
|
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 |
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 |
Polymorphisms at COL2A1 encoding type II collagen, previously associated with Stickler syndrome, associated only with ocular disease in congenital toxoplasmosis.
|
19430638 |
2009 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We describe here two mutations in exon 2 of COL2A1 in three patients with predominantly ocular Stickler syndrome: Cys64Stop in two patients, and a novel structural mutation, Cys57Tyr, in one patient.
|
17721977 |
2008 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To our knowledge, neither non-penetrance nor mosaicism for COL2A1 mutations has been reported for Stickler syndrome.
|
22522174 |
2012 |
|
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 |
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 |
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 |
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 |