|
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To explore an early, rapid and precise diagnosis of Stickler syndrome type I (STL1) and to enrich the spectrum of COL2A1 mutations in the Chinese population, which is poorly studied at present.
|
31736238 |
2019 |
|
Stickler syndrome, type 1
|
0.800 |
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, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The findings of the current study expand the established mutation spectrum of COL2A1, and may facilitate genetic counseling and development of therapeutic strategies for patients with Stickler syndrome.
|
30015854 |
2018 |
|
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations.
|
30130436 |
2018 |
|
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
All of the patients had mutations in the COL2A1 gene and were diagnosed with Stickler syndrome.
|
28283280 |
2017 |
|
Stickler syndrome, type 1
|
0.800 |
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 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
COL2A1 mutations causing haploinsufficiency of type II collagen cause type 1 Stickler syndrome that has a high risk of retinal detachment and failure of the vitreous to develop normally.
|
27406592 |
2016 |
|
Stickler syndrome, type 1
|
0.800 |
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, type 1
|
0.800 |
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 |
|
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report three Caucasian children with: (a) ocular, oral, facial, auditory, and musculoskeletal manifestations of Stickler syndrome type 1; (b) history of generalized and/or partial seizures coupled with abnormal electroencephalographic records; and (c) pathogenic heterozygous mutations of the COL2A1 gene.
|
25809783 |
2015 |
|
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Patient 2 presented with arthrogryposis that was correlated with his mother's habitus and arthritis once COL2A1 mutations suggestive of Stickler syndrome were defined.
|
24664531 |
2014 |
|
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in alternatively spliced retina-specific exons of the widely expressed RPGR and COL2A1 genes lead primarily to X-linked RP and ocular variants of Stickler syndrome, respectively.
|
23647439 |
2013 |
|
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Premature stop codons in COL2A1 exon 2 lead to a Stickler syndrome type I ocular-only phenotype with few or no systemic manifestations.
|
23592912 |
2013 |
|
Stickler syndrome, type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutation of COL2A1 has been confirmed as the causative gene for Stickler syndrome type I CONCLUSION: We concluded that conventional radiographs and the molecular determination of a COL2A1 in patients with (Stickler syndrome type I) are insufficient tools to explain the reasons behind the tremendous magnitude of axial and appendicular skeletal abnormalities.
|
23935403 |
2013 |
|
Stickler syndrome, type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
|
21922596 |
2012 |
|
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The absence of non-ocular features of Stickler syndrome should raise the possibility of mutations in exon 2 of COL2A1.
|
22574936 |
2012 |
|
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To our knowledge, neither non-penetrance nor mosaicism for COL2A1 mutations has been reported for Stickler syndrome.
|
22522174 |
2012 |
|
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation.
|
21777803 |
2011 |
|
Stickler syndrome, type 1
|
0.800 |
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, type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
|
20513134 |
2010 |
|
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
|
20513134 |
2010 |
|
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The aim of our study was to define more precisely the phenotype and genotype of Stickler syndrome type 1 by investigating a large series of patients with a heterozygous mutation in COL2A1.
|
20179744 |
2010 |
|
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
|
20513134 |
2010 |
|
Stickler syndrome, type 1
|
0.800 |
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, type 1
|
0.800 |
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 |