STICKLER SYNDROME, TYPE II (disorder)
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
Thirteen patients aged 10-62y were included, twelve of whom had type 1 Stickler syndrome (COL2A1 mutation) and one type 2 Stickler syndrome (COL11A1 mutation).
|
27193475 |
2016 |
STICKLER SYNDROME, TYPE II (disorder)
|
0.980 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
STICKLER SYNDROME, TYPE II (disorder)
|
0.980 |
GeneticVariation
|
disease |
UNIPROT |
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
|
20513134 |
2010 |
STICKLER SYNDROME, TYPE II (disorder)
|
0.980 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.
|
8872475 |
1996 |
STICKLER SYNDROME, TYPE II (disorder)
|
0.980 |
Biomarker
|
disease |
BEFREE |
Others have implicated COL11A1 in a type 2 Stickler syndrome pedigree with ocular abnormalities.
|
9091360 |
1996 |
STICKLER SYNDROME, TYPE II (disorder)
|
0.980 |
Biomarker
|
disease |
MGD |
A new chondrodystrophic mutant in mice. Electron microscopy of normal and abnormal chondrogenesis.
|
4100752 |
1971 |
STICKLER SYNDROME, TYPE II (disorder)
|
0.980 |
Biomarker
|
disease |
MGD |
Ultrastructural changes of cochlea in mice with hereditary chondrodysplasia (cho/cho).
|
1952599 |
1991 |
STICKLER SYNDROME, TYPE II (disorder)
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
|
10486316 |
1999 |
STICKLER SYNDROME, TYPE II (disorder)
|
0.980 |
GeneticVariation
|
disease |
UNIPROT |
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
|
10486316 |
1999 |
STICKLER SYNDROME, TYPE II (disorder)
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta.
|
11668615 |
2001 |
STICKLER SYNDROME, TYPE II (disorder)
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
|
20513134 |
2010 |
STICKLER SYNDROME, TYPE II (disorder)
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
Variants in this alternatively spliced region of COL11A1 have been identified to cause an autosomal recessive form of Stickler syndrome type 2 characterized by sensorineural hearing loss and eye abnormalities, but without musculoskeletal abnormalities.
|
31833174 |
2020 |
STICKLER SYNDROME, TYPE II (disorder)
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
Here we demonstrate that some mutations in COL11A1 are recessive, modified by alternative splicing and result in type 2 Stickler syndrome rather than fibrochondrogenesis.
|
23922384 |
2013 |
STICKLER SYNDROME, TYPE II (disorder)
|
0.980 |
Biomarker
|
disease |
CTD_human |
|
|
|
STICKLER SYNDROME, TYPE II (disorder)
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
Here we show for the first time that a family with the full Type 2 Stickler syndrome including vitreous and retinal abnormalities is linked to the COL11A1 gene and characterise the mutation as a Glycine to Valine substitution at position 97 of the triple helical domain caused by a single base G-->T mutation.
|
8872475 |
1996 |
STICKLER SYNDROME, TYPE II (disorder)
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome.
|
27081569 |
2016 |
STICKLER SYNDROME, TYPE II (disorder)
|
0.980 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
STICKLER SYNDROME, TYPE II (disorder)
|
0.980 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.
|
17236192 |
2007 |
STICKLER SYNDROME, TYPE II (disorder)
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
Marshall syndrome and type II Stickler syndrome are caused by mutations in COL11A1, which codes for the proα1chain of collagen XI.
|
25073711 |
2014 |
STICKLER SYNDROME, TYPE II (disorder)
|
0.980 |
GeneticVariation
|
disease |
UNIPROT |
A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.
|
8872475 |
1996 |
STICKLER SYNDROME, TYPE II (disorder)
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
Destabilization of osteogenesis imperfecta collagen-like model peptides correlates with the identity of the residue replacing glycine.
|
10725403 |
2000 |
STICKLER SYNDROME, TYPE II (disorder)
|
0.980 |
Biomarker
|
disease |
BEFREE |
Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA).
|
23621912 |
2013 |
STICKLER SYNDROME, TYPE II (disorder)
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
A novel dominant COL11A1 mutation in a child with Stickler syndrome type II is associated with recurrent fractures.
|
28971234 |
2018 |