Ehlers-Danlos Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
None of them could be classified as affected by OI or by any of the three recognized EDS variants associated with COL1A1/COL1A2.
|
31794058 |
2020 |
Ehlers-Danlos Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
This raises the question of the association of COL1A1 p.(Arg312Cys) with arterial complications and the need for a gene panel including not only the usual genes tested in search of classical or vascular EDS but also COL1A1.
|
31531849 |
2020 |
Ehlers-Danlos Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We identified a known <i>COL1A1</i> (encoding collagen type I α 1 chain) mutation (c.2010delT, p.Gly671Alafs*95) in all three patients (the proband, her brother, and her mother) in this family, but also a novel heterozygous <i>COL5A1</i> (encoding collagen type V α 1 chain) mutation (c.5335A>G, p.N1779D) in the region encoding the C-terminal propeptide domain in the proband and her mother, who both had the compound phenotype of OI and EDS.
|
31239369 |
2019 |
Ehlers-Danlos Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
They have a more severe form of type I OI with features of EDS that represents their compound heterozygosity for two deleterious COL1A1 mutations.
|
28436160 |
2017 |
Ehlers-Danlos Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome.
|
28261977 |
2017 |
Ehlers-Danlos Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.
|
28102596 |
2017 |
Ehlers-Danlos Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We also describe the first recessive EDS-like condition to be caused by a recessive COL1A1 variant.
|
27023906 |
2016 |
Ehlers-Danlos Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.
|
26799614 |
2016 |
Ehlers-Danlos Syndrome
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.
|
25845371 |
2015 |
Ehlers-Danlos Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The diagnosis of EDS type VII was confirmed by biochemical studies or mutation analysis showing characteristic mutations in COL1A1 and COL1A2.
|
21801164 |
2012 |
Ehlers-Danlos Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In the second case, a missense mutation in COL1A1 (substitution of arginine by cysteine) results in a type I EDS phenotype with clinically normal-appearing dentition.
|
17118335 |
2007 |
Ehlers-Danlos Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in the COL1A1 or COL1A2 gene encoding the alpha1 and alpha2 chain of type I collagen generally cause either osteogenesis imperfecta or the arthrochalasis form of Ehlers-Danlos syndrome (EDS).
|
16816023 |
2006 |
Ehlers-Danlos Syndrome
|
0.600 |
Biomarker
|
disease |
LHGDN |
Molecular mechanism of alpha 1(I)-osteogenesis imperfecta/Ehlers-Danlos syndrome: unfolding of an N-anchor domain at the N-terminal end of the type I collagen triple helix.
|
16407265 |
2006 |
Ehlers-Danlos Syndrome
|
0.600 |
GeneticVariation
|
disease |
LHGDN |
Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing.
|
15728585 |
2005 |
Ehlers-Danlos Syndrome
|
0.600 |
Biomarker
|
disease |
LHGDN |
Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation.
|
16272059 |
2005 |
Ehlers-Danlos Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Mutations in the genes coding for collagen alpha1(V) chain (COL5A1), collagen alpha2(V) chain (COL5A2), tenascin-X (TNX), and collagen alpha1(I) chain (COL1A1) have been characterized in patients with classical EDS, thus confirming the suspected genetic heterogeneity.
|
11992482 |
2002 |
Ehlers-Danlos Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Thus, in contrast to mutations in genes that encode the dominant protein of a tissue (e.g., COL1A1 and COL2A1), in which "null" mutations result in phenotypes milder than those caused by mutations that alter protein sequence, the phenotypes produced by these mutations in COL3A1 overlap with those of the vascular form of EDS.
|
11577371 |
2001 |
Ehlers-Danlos Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The proband is the fourth reported proband with Ehlers-Danlos syndrome VII with a single-base mutation that causes skipping of exon 6 in the splicing of RNA from either the COL1A1 gene or COL1A2 gene.
|
1990839 |
1991 |
Ehlers-Danlos Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We have used a number of restriction site dimorphisms, tightly linked to the structural genes of type I collagen (COL1A1 COL1A2) and type III collagen (COL3A1), to investigate the segregation of corresponding alleles in three pedigrees in which type II EDS was clearly inherited as a dominant trait.
|
2049575 |
1991 |
Ehlers-Danlos Syndrome
|
0.600 |
Biomarker
|
disease |
MGD |
|
|
|