|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
PSACH results from mutations in the cartilage oligomeric matrix protein (COMP) gene, while SEDC is caused by mutations in the gene for type II procollagen (COL2A1).
|
11746045 |
2001 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia.
|
7700721 |
1994 |
|
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 |
Phenotype of the twin girls resembles spondyloepiphyseal dysplasia congenita Spranger-Wiedemann (SEDC-SW), but shortening of the stature is more severe and the cranioface is normal.
|
16088915 |
2005 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
This case further documents the molecular basis of the spondyloepiphyseal dysplasia spectrum of chondrodysplasias as mutations in COL2A1.
|
1429602 |
1992 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Although type II collagen defects have been found in some families with SED congenita, the phenotype in our family showed discordant segregation with COL2A1 gene associated restriction fragment length polymorphisms (RFLPs), the markers for the structural locus of type II collagen.
|
1978986 |
1990 |
|
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 |
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 |
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 |
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 |
An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.
|
7847372 |
1995 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.
|
15895462 |
2005 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of the molecular defect in a family with spondyloepiphyseal dysplasia.
|
2543071 |
1989 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Alternative splicing of exon 12 of the COL2A1 gene interrupts the triple helix of type-II collagen in the Kniest form of spondyloepiphyseal dysplasia.
|
8893763 |
1996 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
Biomarker
|
disease |
MGD |
Two human patients with spondyloepiphyseal dysplasia (SED) congenita have been reported with the same amino acid substitution at position 789 in the human COL2A1 gene.
|
12968670 |
2003 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the COL2A1 gene have been identified in one family with spondyloepiphyseal dysplasia and secondary deposits of pyrophosphate and apatite crystalline deposits.
|
11123024 |
1999 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
This study confirmed the importance of dominant negative mutations of the COL2A1 gene in producing the spondyloepiphyseal dysplasia congenita phenotype.
|
8325895 |
1993 |
|
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 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 |
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 |
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 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutation in the COL2A1 gene has been identified in one family with spondyloepiphyseal dysplasia and calcium pyrophosphate and apatite crystalline deposits.
|
11333354 |
2001 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
Biomarker
|
disease |
MGD |
Collagen II is essential for the removal of the notochord and the formation of intervertebral discs.
|
9832566 |
1998 |
|
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 |