|
Congenital porencephaly
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The present case illustrates the clinicopathological spectrum of COL4A1-related cerebral SVD presenting as hemorrhagic stroke in the young with porencephaly, intellectual disability, and Axenfield-Rieger anomaly and thus adds to the clinical heterogeneity of this genetic disorder.
|
31808207 |
2020 |
|
Congenital porencephaly
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
This report adds another disease spectrum of COL4A1 mutation which include porencephaly, hypertrophic cardiomyopathy, rhabdomyolysis and fiber-type disproportion.
|
31540749 |
2020 |
|
Congenital porencephaly
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Considering the long-term clinical implications of these mutations, posterior cortical cataracts, bilateral posterior lenticonus, and porencephaly should raise clinical suspicion for COL4A1 mutations.
|
31128271 |
2019 |
|
Congenital porencephaly
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, pediatric neurologists should be aware of an undiagnosed COL4A1 mutation when a patient presents with an unexplained neurological phenotype, such as mild hemiparesis, even in the absence of porencephaly.
|
27916450 |
2017 |
|
Congenital porencephaly
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Clinical manifestations associated with mutations of the human COL4A1 gene include perinatal cerebral hemorrhage and porencephaly, hereditary angiopathy, nephropathy, aneurysms and muscle cramps (HANAC), ocular dysgenesis, myopathy, Walker–Warburg syndrome and systemic tissue degeneration.
|
26363084 |
2016 |
|
Congenital porencephaly
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations of COL4A1 that disrupt the NC1 domain are associated with antenatal cerebral haemorrhage and porencephaly, but not kidney disease.
|
27190376 |
2016 |
|
Congenital porencephaly
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Normal immunofluorescence pattern of skin basement membranes in a family with porencephaly due to COL4A1 G749S mutation.
|
26686511 |
2016 |
|
Congenital porencephaly
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We report on a girl with porencephaly and an episode of microangiopathic hemolysis in infancy and her father with HANAC, both of whom had a heterozygous missense mutation of COL4A1 (c.3715G>A, p.G1239R).
|
25425218 |
2015 |
|
Congenital porencephaly
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Since 2005, COL4A1 mutations have been known as an autosomal dominant cause of hereditary porencephaly.
|
25719457 |
2015 |
|
Congenital porencephaly
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in COL4A1, encoding the α1 chain, cause a multisystem disease with prominent cerebrovascular manifestations, including porencephaly, bleeding-prone cerebral small vessel disease, and intracranial aneurysms.
|
24390199 |
2014 |
|
Congenital porencephaly
|
0.600 |
Biomarker
|
disease |
CTD_human |
COL4A1 mutations were identified in 15 patients (21%, 10 mutations in porencephaly and 5 mutations in schizencephaly), who showed a variety of associated findings, including intracranial calcification, focal cortical dysplasia, pontocerebellar atrophy, ocular abnormalities, myopathy, elevated serum creatine kinase levels, and hemolytic anemia.
|
23225343 |
2013 |
|
Congenital porencephaly
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
COL4A1 mutations were identified in 15 patients (21%, 10 mutations in porencephaly and 5 mutations in schizencephaly), who showed a variety of associated findings, including intracranial calcification, focal cortical dysplasia, pontocerebellar atrophy, ocular abnormalities, myopathy, elevated serum creatine kinase levels, and hemolytic anemia.
|
23225343 |
2013 |
|
Congenital porencephaly
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Here, we report on two novel mutations in COL4A1 in two families with porencephaly, intracerebral hemorrhage and severe white matter disease caused by haploinsufficiency.
|
23065703 |
2013 |
|
Congenital porencephaly
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We observed porencephaly and white matter lesions in members from two families that lack COL4A1 mutations.
|
22333902 |
2012 |
|
Congenital porencephaly
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
De novo or inherited heterozygous mutations in COL4A1, which encodes the type IV α1 collagen chain that is essential for structural integrity for vascular basement membranes, have been reported in individuals with porencephaly.
|
22209246 |
2012 |
|
Congenital porencephaly
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations in COL4A1 on chromosome 13q34, encoding the alpha1 chain of type IV collagen, have been linked to a spectrum of cerebral small-vessel disease in humans, including perinatal intracerebral hemorrhage (ICH) with consequent porencephaly, adult-onset ICH, microbleeds, lacunar strokes, and leukoaraiosis, which follows an autosomal dominant pattern of inheritance.
|
20166936 |
2010 |
|
Congenital porencephaly
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in COL4A1 have been reported in autosomal-dominant porencephaly and in patients with symptomatic small vessel brain disease, inconstantly associated with eye defects.
|
20818663 |
2010 |
|
Congenital porencephaly
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the COL4A1 gene encoding the type IV collagen alpha 1 chain, which are already associated with porencephaly and infantile hemiparesis, have been recently recognized as a further monogenic cause of small vessel disease that can present in adulthood.
|
20558831 |
2010 |
|
Congenital porencephaly
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutation in COL4A1 should be considered in families with a history of autosomal dominant cerebral vasculopathy, even in the absence of porencephaly.
|
19477666 |
2010 |
|
Congenital porencephaly
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutation of the COL4A1 gene appears to be a risk factor of antenatal intracerebral hemorrhage followed by porencephaly in the preterm newborn.
|
19194877 |
2009 |
|
Congenital porencephaly
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Recently COL4A1, a gene encoding the type IV collagen alpha1 chain, has been found to be involved in families with autosomal-dominant porencephaly and infantile hemiparesis.
|
17379824 |
2007 |
|
Congenital porencephaly
|
0.600 |
Biomarker
|
disease |
MGD |
Role of COL4A1 in small-vessel disease and hemorrhagic stroke.
|
16598045 |
2006 |
|
Congenital porencephaly
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mouse mutants bearing an in-frame deletion of exon 40 of Col4a1 either die from haemorrhage in the perinatal period or have porencephaly in survivors.
|
16107487 |
2006 |
|
Congenital porencephaly
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We also show that COL4A1 mutations segregate with porencephaly in human families.
|
15905400 |
2005 |
|
Congenital porencephaly
|
0.600 |
Biomarker
|
disease |
MGD |
Because not all mutant mice develop porencephaly, we propose that Col4a1 mutations conspire with environmental trauma in causing the disease.
|
15905400 |
2005 |