|
Stickler syndrome (disorder)
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
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 |
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
|
20513134 |
2010 |
|
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 |
Biomarker
|
disease |
BEFREE |
A series of 44 unrelated patients in whom COL2A1 screening demonstrated normal results but whose phenotype was nevertheless highly suggestive of either Stickler syndrome (with ocular involvement) or Marshall syndrome were investigated for mutations in the COL11A1 gene.
|
17236192 |
2007 |
|
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-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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Arginine to cysteine mutations are rather infrequent COL2A1 mutations which cause a spectrum of phenotypes including classic SEDC and Stickler dysplasia, but also some unusual entities that have not yet been recognised and described as type II collagenopathies.
|
16155195 |
2006 |
|
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 |
Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis.
|
18276201 |
2008 |
|
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 |
Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene.
|
12686304 |
2003 |
|
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 |
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Here we characterize novel dominant negative mutations in COL2A1 that result in Stickler syndrome.
|
11007540 |
2000 |
|
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 |
In contrast, the Arg453Ter mutation and other protein-truncating mutations in the helical domain of COL2A1 have been associated until now with classic Stickler syndrome.
|
12939326 |
2003 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In this study, three novel and two known mutations in the COL2A1 gene were identified in six of 16 Chinese patients with Stickler syndrome.
|
27390512 |
2016 |