|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations of GATA3 cause Hypoparathyroidism, sensorineural Deafness and Renal dysplasia syndrome (HDR).
|
19022243 |
2009 |
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Chromosome 10p terminal deletions have been associated with DiGeorge phenotype, and within the same genomic region haploinsufficiency of GATA3 causes the HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia).
|
20425828 |
2010 |
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here we report a novel mutation of GATA3 in a patient diagnosed with HDR syndrome at the age of 58 with extensive intracranial calcification.
|
23186964 |
2013 |
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The aim of the study was to identify the GATA3 mutation in a HDR patient and determine its functional consequences.
|
19723756 |
2009 |
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This is the first report of a heterozygous GATA3 whole gene deletion causing HDR syndrome in a Sri Lankan family.
|
31660939 |
2019 |
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
One of the somatic mutations we identified was identical to a germline GATA3 mutation reported in two kindreds with HDR syndrome/OMIM #146255, which is an autosomal dominant syndrome caused by the haplo-insufficiency of GATA3.
|
15361840 |
2004 |
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia.
|
21399899 |
2011 |
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous GATA3 mutations occur in up to 15% of estrogen receptor (ER)-positive breast tumors and have been proposed to be null alleles resulting in haploinsufficiency; however, the mutation spectrum of GATA3 in breast cancer is in sharp contrast to that found in HDR syndrome, a true GATA3 haploinsufficiency disease.
|
30061207 |
2018 |
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Thus, the presence of triad of HDR syndrome was considered, and genetic analysis using a next-generation sequencer identified a novel de novo missense mutation in exon 4 p.R276Q (c.827G>A) of GATA3 gene.
|
26777049 |
2015 |
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Thus, our results, which expand the spectrum of HDR-associated GATA3 mutations and report the first acceptor splice site mutation, help to elucidate the molecular mechanisms that alter the function of this zinc finger transcription factor and its role in causing this developmental anomaly.
|
14985365 |
2004 |
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
HDR syndrome (also known as Barakat syndrome) is a rare genetic disorder due to deletions/mutations on specific regions of zinc-finger transcription factor (GATA3) gene.
|
30218523 |
2018 |
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
HDR syndrome is a heterogeneous syndrome most commonly associated with GATA3 haploinsufficiency.
|
23757620 |
2014 |
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We identified a novel nonsense mutation which will expand the spectrum of HDR-associated GATA3 mutations.
|
25124981 |
2014 |
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Whole-genome sequencing identified novel mutations in GATA3, which causes HDR syndrome (hypoparathyroidism and deafness), and STS, which causes X -linked congenital ichthyosis.
|
26731259 |
2016 |
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Investigation for GATA3 mutations in three other HDR probands identified one nonsense mutation and two intragenic deletions that predicted a loss of function, as confirmed by absence of DNA binding by the mutant GATA3 protein.
|
10935639 |
2000 |
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We identified a novel R299Q mutation in GATA3 in a Japanese family with HDR syndrome.
|
26514990 |
2015 |
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the GATA3 gene in a family with HDR syndrome (Hypoparathyroidism, sensorineural Deafness and Renal anomaly syndrome).
|
16509533 |
2006 |
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.
|
29073906 |
2017 |
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, this study reiterates the clinical variability in HDR syndrome and identifies three novel mutations of GATA3.
|
21157112 |
2011 |
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We identified a novel R299Q mutation in GATA3 in a Japanese family with HDR syndrome.
|
26514990 |
2015 |
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel insertion mutation in GATA3 with HDR syndrome.
|
15830275 |
2005 |
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The results suggest that HDR syndrome is primarily caused by GATA3 haploinsufficiency and is associated with a wide phenotypic spectrum.
|
11389161 |
2001 |
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Audiometric characteristics of a dutch family with a new mutation in GATA3 causing HDR syndrome.
|
24434941 |
2014 |
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These results are consistent with the predicted functions of human GATA3-ZnF1 from three-dimensional molecular modeling and with HDR being a result of GATA3 haploinsufficiency.
|
15705923 |
2005 |