Weaver syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We compare the EED phenotype with that of Weaver syndrome (56 individuals), caused by constitutive EZH2 variants.
|
30793471 |
2019 |
Weaver syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Constitutional pathogenic variants in its component proteins have been found to cause two established overgrowth syndromes: Weaver syndrome (EZH2-related overgrowth) and Cohen-Gibson syndrome (EED-related overgrowth).Imagawa et al.
|
31736240 |
2019 |
Weaver syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
EZH2-associated overgrowth, caused by constitutional heterozygous mutations within Enhancer of Zeste homologue 2 (EZH2), has a phenotypic spectrum ranging from tall stature without obvious intellectual disability or dysmorphic features to classical Weaver syndrome (OMIM #277590).
|
31724824 |
2019 |
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 |
Weaver syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To test alternative hypotheses that EZH2 variants found in Weaver syndrome cause either a gain of function or a partial loss of function.
|
29244146 |
2018 |
Weaver syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
|
30613354 |
2018 |
Weaver syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recently, germline mutations in the SUZ12, EZH2 and EED genes have been reported in Weaver syndrome (WS) or Weaver-like syndrome, suggesting a functional link between PRC2 deficits and WS.
|
30019515 |
2018 |
Weaver syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we report a stepwise feedback mechanism entailing key residues within distinctive interfacing motifs of EZH2 or EED that are found to be mutated in cancers and/or Weaver syndrome.
|
29681499 |
2018 |
Weaver syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our observation, together with previous reports suggests that EED gene testing is warranted in patients with the overgrowth syndrome features and suspicion of Weaver syndrome with normal results of EZH2 gene sequencing.
|
29410511 |
2018 |
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 |
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 |
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 |
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 |
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 |