|
Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
By conducting WES and Sanger sequencing, a COL4A5 missense variant, c.2156G>A (p.G719E), was identified to co-segregate with the renal disorder, and it is possible that this variant is the genetic cause of the disorder in this family.
|
31490752 |
2019 |
|
Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families.
|
25307721 |
2015 |
|
Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease.
|
25739341 |
2015 |
|
Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Whereas mutations in COL4A5 and contiguous X-chromosomal deletions involving COL4A5 and COL4A6 are associated with X-linked Alport syndrome, a nephropathy associated with deafness and cataract, mutations in COL4A6 alone have not been related to any hereditary disease so far.
|
23714752 |
2014 |
|
Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
WES identified 2 novel and 2 known pathogenic COL4A3/COL4A4/COL4A5 mutations in 3 families with previously unexplained inherited kidney disease.
|
25381091 |
2014 |
|
Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The Col4A3, Col4A4 and Col4A5 collagen type IV genes are found to be mutated in Col IV nephropathy.
|
20951199 |
2011 |
|
Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
This mutation, in a non-collagenous interruption associated with severe renal disease, provides evidence for the importance of this structural motif and suggests the range of phenotypes associated with COL4A5 mutations is more diverse than previously realized.
|
20881942 |
2011 |
|
Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations involving any of the collagen IV genes (COL4A3, COL4A4, and COL4A5) affect GBM assembly and cause Alport syndrome, a progressive hereditary kidney disease with no definitive therapy.
|
20197625 |
2010 |
|
Kidney Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
COL4A3, COL4A4, and COL4A5 are the only collagen genes that have been implicated in inherited nephropathies in humans.
|
18160688 |
2007 |
|
Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The prevalence of X-linked Alport syndrome, a progressive inherited nephropathy associated with mutations in the type IV collagen gene COL4A5, is remarkably high in French Polynesia.Methods.
|
15149316 |
2004 |
|
Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
For this syndrome, an almost constant association of large COL4A5 rearrangements with a severe juvenile form of nephropathy has been described for male patients.
|
11773466 |
2002 |
|
Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
X-linked Alport syndrome is a progressive nephropathy associated with mutations in the COL4A5 gene.
|
10362815 |
1999 |
|
Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in the basement membrane collagen gene COL4A5 cause the progressive renal glomerular nephropathy and typical hearing loss that occur in X-linked Alport syndrome.
|
9150741 |
1997 |
|
Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Finally, we have detected a similar deletion of the COL4A5 and COl4A6 genes in a DL affected female who showed no sign of nephropathy, demonstrating the AS carrier status of this DL patient.
|
8587250 |
1995 |
|
Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Alport syndrome (AS), an X-linked kidney disorder, has been shown to be caused by mutations in the gene for the alpha 5-chain of type IV collagen (COL4A5), which maps to Xq22.
|
1330889 |
1992 |