|
Stickler syndrome, type 1
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients.
|
25780254 |
2015 |
|
Stickler syndrome, type 1
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.
|
25240749 |
2014 |
|
Stickler syndrome, type 1
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Recessive mutations in COL11A2 (collagen, type XI, alpha 2), are responsible for otospondylomegaepiphyseal dysplasia (OSMED) and non-syndromic hearing loss while dominant mutations are associated with Stickler type III, isolated cleft palate, Robin sequence, non-ophthalmic Stickler syndrome, early onset osteoarthritis and autosomal dominant hearing loss.
|
21204229 |
2011 |
|
Stickler syndrome, type 1
|
0.300 |
Biomarker
|
disease |
BEFREE |
To date three genes, COL2A1, COL11A1, and COL11A2, encoding the heterotypic type II/XI collagen fibrils present in vitreous and cartilage have been shown to have mutations that result in Stickler syndrome.
|
16752401 |
2006 |
|
Stickler syndrome, type 1
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the COL11A2 gene have been implicated in causing the autosomal dominant form of this syndrome as well as non-ocular Stickler syndrome and the autosomal recessive syndrome otospondylomegaepiphyseal dysplasia (OSMED).
|
15558753 |
2005 |
|
Stickler syndrome, type 1
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome.
|
15372529 |
2004 |
|
Stickler syndrome, type 1
|
0.300 |
Biomarker
|
disease |
MGD |
The mild phenotype is consistent with similar mutations in the COL11A2 gene seen in patients with nonocular Stickler syndrome and some patients with otospondylomegaepiphyseal dysplasia (OSMED), as well as in patients with a nonsyndromic form of deafness called DFNA13.
|
11668593 |
2001 |
|
Stickler syndrome, type 1
|
0.300 |
Biomarker
|
disease |
BEFREE |
The mild phenotype is consistent with similar mutations in the COL11A2 gene seen in patients with nonocular Stickler syndrome and some patients with otospondylomegaepiphyseal dysplasia (OSMED), as well as in patients with a nonsyndromic form of deafness called DFNA13.
|
11668593 |
2001 |
|
Stickler syndrome, type 1
|
0.300 |
Biomarker
|
disease |
MGD |
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).
|
10581026 |
1999 |
|
Stickler syndrome, type 1
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Since Stickler syndrome can be produced by mutations in COL2A1, COL11A1, and COL11A2, our data suggest that there is at least a fourth locus for Stickler syndrome.
|
9805127 |
1998 |
|
Stickler syndrome, type 1
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
This is the second family in whom a COL11A2 mutation has been found to cause Stickler syndrome without eye involvement.
|
9506662 |
1998 |
|
Stickler syndrome, type 1
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).
|
9805126 |
1998 |
|
Stickler syndrome, type 1
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
We compare the clinical findings in our patients with a group of patients who have a dominantly inherited, non-ocular form of Stickler syndrome due to a COL11A2 splice-site mutation.
|
9188673 |
1997 |
|
Stickler syndrome, type 1
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
A mutation in COL11A2, the gene for alpha 2 (XI) procollagen, has recently been found in a family described as having Stickler syndrome, although there was no ocular involvement.
|
8872475 |
1996 |
|
Stickler syndrome, type 1
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
A recent report identifies the COL11A2 mutation in a Dutch pedigree with systemic features of Stickler syndrome but without ocular involvement.
|
9091360 |
1996 |
|
Stickler syndrome, type 1
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Since COL11A2 has also been localized to this chromosome region, a mutation in this collagen gene is an attractive explanation for the Stickler syndrome phenotype in this family.
|
7833911 |
1994 |