Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
All of them are monoallelic except for the two recent reports showing that biallelic variants in COL2A1 can cause spondyloepiphyseal dysplasia congenita in two children.
|
31755234 |
2020 |
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations in the triple helical region of the COL2A1 protein have been associated with lethal spondyloepiphyseal dysplasia (SED).
|
30932712 |
2019 |
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our study contributed to the further expansion of the COL2A1 mutation spectrum and provided more information concerning SEDC in the Chinese population through literature review.
|
27059630 |
2016 |
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our study extends the mutation spectrum of SEDC and confirms genotype-phenotype relationship between mutations at glycine in the triple helix of the alpha-1(II) chains of the COL2A1 and clinical findings of SEDC, which may be helpful in the genetic counseling of patients with SEDC.
|
26030151 |
2015 |
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.
|
26380986 |
2015 |
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
c.2224G>A (p.Gly687Ser) is a novel mutation of COL2A1 associated with spondyloepiphyseal dysplasia congenital.
|
25967556 |
2015 |
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Herein, we describe a unique case of SEDC with mild coxa vara (SEDC-M) caused by double de novo COL2A1 mutations located on the same allele.
|
25900302 |
2015 |
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
|
25604898 |
2015 |
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Our study extends the mutation spectrum of SEDC and confirms genotype-phenotype relationship between mutations at glycine in the triple helix of the alpha-1(II) chains of the COL2A1 and clinical findings of SEDC, which may be helpful in the genetic counseling of patients with SEDC.
|
26030151 |
2015 |
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This is the first familial report of G546S mutation in the COL2A1 gene that results in SEDC.
|
24736929 |
2014 |
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our study extends the mutation spectrum of SEDC and confirms genotype-phenotype relationship between mutations in the COL2A1 gene and clinical findings of SEDC.
|
23932928 |
2014 |
Achondrogenesis type 2
|
1.000 |
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 |
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
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 |
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our study extends the mutation spectrum of SED and confirms a relationship between mutations in the COL2A1 gene and clinical findings of SED.
|
23079993 |
2012 |
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
Biomarker
|
disease |
MGD |
A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation.
|
22028304 |
2012 |
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.
|
22791362 |
2012 |
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification of three novel mutations in the COL2A1 gene in four unrelated Chinese families with spondyloepiphyseal dysplasia congenita.
|
21924244 |
2011 |
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family.
|
21204228 |
2011 |
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
Biomarker
|
disease |
MGD |
Mutation discovery in mice by whole exome sequencing.
|
21917142 |
2011 |
Achondrogenesis type 2
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
|
20513134 |
2010 |
Achondrogenesis type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Achondrogenesis Type II (ACG2) is a lethal skeletal disorder caused by a dominant mutation in the type II collagen gene (COL2A1).
|
20583175 |
2010 |
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
|
20513134 |
2010 |
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We previously reported a familial G504S mutation in the type II collagen (COL2A1) gene resulting in SEDC.
|
17920052 |
2008 |
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene.
|
18541977 |
2008 |
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The pregnant woman we previously reported with SEDC carried the G to A substitution at nucleotide 1510 in exon 23 of COL2A1 gene, which caused a change from glycine to serine at codon 504 (G504S).
|
19072565 |
2008 |