|
Weaver syndrome
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Weaver syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Weaver syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Weaver syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Our data establish EZH2 mutations as the cause of Weaver syndrome and provide further links between histone modifications and regulation of human growth.
|
22190405 |
2011 |
|
Weaver syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Our data establish EZH2 mutations as the cause of Weaver syndrome and provide further links between histone modifications and regulation of human growth.
|
22190405 |
2011 |
|
Weaver syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Our data establish EZH2 mutations as the cause of Weaver syndrome and provide further links between histone modifications and regulation of human growth.
|
22190405 |
2011 |
|
Weaver syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our data establish EZH2 mutations as the cause of Weaver syndrome and provide further links between histone modifications and regulation of human growth.
|
22190405 |
2011 |
|
Weaver syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These data show that mutations in EZH2 cause Weaver syndrome.
|
22177091 |
2012 |
|
Weaver syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
These data show that mutations in EZH2 cause Weaver syndrome.
|
22177091 |
2012 |
|
Weaver syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
These data show that mutations in EZH2 cause Weaver syndrome.
|
22177091 |
2012 |
|
Weaver syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Through analyses of clinical data and facial photographs of EZH2 mutation-positive individuals, we have shown that the facial features can be subtle and the clinical diagnosis of Weaver syndrome is thus challenging, especially in older individuals.
|
24214728 |
2013 |
|
Weaver syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Through analyses of clinical data and facial photographs of EZH2 mutation-positive individuals, we have shown that the facial features can be subtle and the clinical diagnosis of Weaver syndrome is thus challenging, especially in older individuals.
|
24214728 |
2013 |
|
Weaver syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Through analyses of clinical data and facial photographs of EZH2 mutation-positive individuals, we have shown that the facial features can be subtle and the clinical diagnosis of Weaver syndrome is thus challenging, especially in older individuals.
|
24214728 |
2013 |
|
Weaver syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Weaver syndrome and defective cortical development: a rare association.
|
23239504 |
2013 |
|
Weaver syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
On the basis of the similarities of the patient's phenotype to Weaver syndrome, which is caused by de novo mutations in EZH2, and on other lines of evidence including mouse Eed hypomorphs, we characterize this mutation as probably pathogenic for a Weaver-like overgrowth syndrome.
|
25787343 |
2015 |
|
Weaver syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.
|
26380986 |
2015 |
|
Weaver syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the enhancer of zeste homolog 2 (EZH2) gene were found to cause Weaver syndrome, and have been associated with hematologic malignancies, including acute myeloid leukemia (AML).
|
26762561 |
2016 |
|
Weaver syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Our results support the hypothesis that WS is caused by constitutional mutations in EZH2 that alter the histone methyltransferase function of PRC2.
|
26694085 |
2016 |
|
Weaver syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our results support the hypothesis that WS is caused by constitutional mutations in EZH2 that alter the histone methyltransferase function of PRC2.
|
26694085 |
2016 |
|
Weaver syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Our results support the hypothesis that WS is caused by constitutional mutations in EZH2 that alter the histone methyltransferase function of PRC2.
|
26694085 |
2016 |
|
Weaver syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we analyzed eight probands with clinically suspected WS by whole-exome sequencing and identified three mutations: a 25.4-kb deletion partially involving EZH2 and CUL1 (individual 1), a missense mutation (c.707G>C, p.Arg236Thr) in EED (individual 2), and a missense mutation (c.1829A>T, p.Glu610Val) in SUZ12 (suppressor of zeste 12 homolog) (individual 3) inherited from her father (individual 4) with a mosaic mutation.
|
28229514 |
2017 |
|
Weaver syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Emerging evidence in the literature indicates that Weaver syndrome EZH2 mutations may result in loss of function of the gene and our report suggests that haploinsufficiency of EZH2 may replicate the clinical phenotype of Weaver syndrome.
|
28696078 |
2017 |
|
Weaver syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These findings support that Weaver syndrome is a disorder with locus heterogeneity and can be due to pathogenic variants in either EZH2 or EED.
|
27868325 |
2017 |
|
Weaver syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Here, we analyzed eight probands with clinically suspected WS by whole-exome sequencing and identified three mutations: a 25.4-kb deletion partially involving EZH2 and CUL1 (individual 1), a missense mutation (c.707G>C, p.Arg236Thr) in EED (individual 2), and a missense mutation (c.1829A>T, p.Glu610Val) in SUZ12 (suppressor of zeste 12 homolog) (individual 3) inherited from her father (individual 4) with a mosaic mutation.
|
28229514 |
2017 |
|
Weaver syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Consistent with a role for EZH2 in human oocytes, we demonstrate that de novo germline mutations in EZH2 occurred in the maternal germline in some cases of Weaver syndrome.
|
30005706 |
2018 |