Long QT Syndrome 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our results provide evidence for the role of EIF2AK3 in WRS.
|
10932183 |
2000 |
Long QT Syndrome 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
This is the first case in which the pathophysiological role of EIF2AK3 deficiency in WRS is confirmed at the molecular level.
|
12086964 |
2002 |
Long QT Syndrome 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
The patient with no EIF2AK3 involvement did not have any of the other variable clinical manifestations associated with WRS, which supports the idea that the genetic heterogeneity between this variant form of WRS and EIF2AK3 WRS correlates with some clinical heterogeneity.
|
15220213 |
2004 |
Long QT Syndrome 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our data suggest that disruption of the EIF2AK3 gene may lead to defective mitochondrial fatty acid oxidation and hypoglycaemia, thus adding to the heterogeneous phenotype of WRS.
|
18500571 |
2008 |
Long QT Syndrome 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The coding regions of EIF2AK3 were sequenced in 34 probands with infancy-onset diabetes with a clinical phenotype suggestive of WRS (n = 28) or homozygosity at the WRS locus (n = 6).
|
19837917 |
2009 |
Long QT Syndrome 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genetic counselling and antenatal diagnosis is recommended for parents of a WRS patient with confirmed EIF2AK3 mutation.
|
21050479 |
2010 |
Long QT Syndrome 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we analyzed the EIF2AK3 gene in a 10-year-old WRS patient and his parents to study the clinical features and the mechanism for genetic onset of WRS.
|
21648287 |
2011 |
Long QT Syndrome 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the EIF2AK3 gene were described in patients with WRS and defects in this gene lead to increased susceptibility to apoptotic cell death.
|
22991235 |
2012 |
Long QT Syndrome 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A clinical diagnosis of WRS was confirmed by the identification of a novel homozygous nonsense mutation (R491X) in exon 9 of the EIF2AK3 gene.
|
22672868 |
2012 |
Long QT Syndrome 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 gene mutations and characterized by permanent neonatal diabetes (PNDM), skeletal dysplasia, and recurrent hepatitis.
|
23759358 |
2013 |
Long QT Syndrome 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The EIF2AK3 c.1259delA mutation results in a variable phenotype, ranging from isolated PND to typical WRS.
|
23585173 |
2013 |
Long QT Syndrome 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Background Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 gene mutations and characterized by permanent neonatal diabetes (PNDM), skeletal dysplasia, and recurrent hepatitis.
|
28156240 |
2013 |
Long QT Syndrome 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We suggest the screening for EIF2AK3 gene mutations as WRS is now recognized as the most frequent cause of neonatal diabetes in children with consanguineous parents.
|
24168455 |
2014 |
Long QT Syndrome 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
The clinical suspicion of WRS was confirmed by molecular analysis of the EIF2AK3 gene.
|
24859506 |
2014 |
Long QT Syndrome 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 mutations and characterized by early-onset diabetes and skeletal dysplasia.
|
25659842 |
2015 |
Long QT Syndrome 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
WRS is caused by biallelic mutations in the gene encoding eukaryotic translation initiation factor 2alpha kinase 3 (EIF2AK3).
|
28843469 |
2018 |
Long QT Syndrome 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genetic testing confirmed the diagnosis of WRS via identification of a novel biallelic frameshift mutation in the EIF2AK3 gene.
|
30922274 |
2019 |