×
Entrez Id:
157570
Gene Symbol:
ESCO2
ESCO2
Roberts-SC phocomelia syndrome
0.800
GeneticVariation
BEFREE
We identified mutations in a new human gene, ESCO2 , associated with Roberts syndrome in 15 kindreds.
15821733
2005
×
Entrez Id:
157570
Gene Symbol:
ESCO2
ESCO2
Roberts-SC phocomelia syndrome
0.800
GeneticVariation
BEFREE
In conclusion, we report a novel ESCO2 mutation and expand the clinical spectrum of Roberts syndrome .
26710928
2016
×
Entrez Id:
157570
Gene Symbol:
ESCO2
ESCO2
Roberts-SC phocomelia syndrome
0.800
GeneticVariation
BEFREE
Roberts syndrome (RBS ) is a human developmental disorder caused by mutations in the cohesin acetyltransferase ESCO2 .
26729373
2016
×
Entrez Id:
157570
Gene Symbol:
ESCO2
ESCO2
Roberts-SC phocomelia syndrome
0.800
GeneticVariation
BEFREE
Mutations in Esco2 cause Roberts syndrome , a developmental disease characterized by severe prenatal retardation as well as limb and facial abnormalities.
28934466
2017
×
Entrez Id:
157570
Gene Symbol:
ESCO2
ESCO2
Roberts-SC phocomelia syndrome
0.800
GeneticVariation
BEFREE
We performed mutational analysis of the ESCO2 gene in two fetuses diagnosed with RS and their normal parents.
16775838
2006
×
Entrez Id:
157570
Gene Symbol:
ESCO2
ESCO2
Roberts-SC phocomelia syndrome
0.800
GeneticVariation
BEFREE
Lymphoblastoid cell lines were established from an RBS family, including the proband and parents carrying ESCO2 mutations.
30508616
2019
×
Entrez Id:
157570
Gene Symbol:
ESCO2
ESCO2
Roberts-SC phocomelia syndrome
0.800
GeneticVariation
BEFREE
RBS is caused by mutations in ESCO2 , a gene which encodes an acetyltransferase for the cohesin complex.
24098154
2013
×
Entrez Id:
157570
Gene Symbol:
ESCO2
ESCO2
Roberts-SC phocomelia syndrome
0.800
GeneticVariation
BEFREE
Recently, mutations in ESCO2 (establishment of cohesion 1 homolog 2 ) on 8p21.1 have been reported in RBS .
16380922
2005
×
Entrez Id:
157570
Gene Symbol:
ESCO2
ESCO2
Roberts-SC phocomelia syndrome
0.800
GeneticVariation
BEFREE
The present case demonstrates the prenatal diagnosis of RBS associated with a frameshift mutation in ESCO2 .
18186147
2008
×
Entrez Id:
157570
Gene Symbol:
ESCO2
ESCO2
Roberts-SC phocomelia syndrome
0.800
GeneticVariation
BEFREE
The mortality of RBS patients (21%) was higher compared with patients without RBS (3.9%, p < 0.001).
29382509
2018
×
Entrez Id:
157570
Gene Symbol:
ESCO2
ESCO2
Roberts-SC phocomelia syndrome
0.800
GeneticVariation
CLINVAR
×
Entrez Id:
157570
Gene Symbol:
ESCO2
ESCO2
Roberts-SC phocomelia syndrome
0.800
GeneticVariation
UNIPROT
We identified mutations in a new human gene, ESCO2 , associated with Roberts syndrome in 15 kindreds.
15821733
2005
×
Entrez Id:
114799
Gene Symbol:
ESCO1
ESCO1
Roberts-SC phocomelia syndrome
0.010
GeneticVariation
BEFREE
Eco1 mutation induces Roberts syndrome clinically and rDNA transcription disorders in vivo.
29039458
2017
×
Entrez Id:
157570
Gene Symbol:
ESCO2
ESCO2
Roberts-SC phocomelia syndrome
0.800
Biomarker
BEFREE
Since ESCO2 has been identified as the gene defective in the rare autosomal recessive cohesinopathy Roberts syndrome (RBS ), cells from RBS patients can be used to elucidate the role of ESCO2 .
19738907
2009
×
Entrez Id:
157570
Gene Symbol:
ESCO2
ESCO2
Roberts-SC phocomelia syndrome
0.800
Biomarker
CTD_human
The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature.
20101700
2010
×
Entrez Id:
157570
Gene Symbol:
ESCO2
ESCO2
Roberts-SC phocomelia syndrome
0.800
Biomarker
GENOMICS_ENGLAND
Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations.
31192177
2019
×
Entrez Id:
157570
Gene Symbol:
ESCO2
ESCO2
Roberts-SC phocomelia syndrome
0.800
Biomarker
GENOMICS_ENGLAND
In situ hybridisation on human embryos showed ESCO2 expression in the brain, face, limb, kidney and gonads, which corresponds to the structures affected in RBS .
19574259
2010
×
Entrez Id:
157570
Gene Symbol:
ESCO2
ESCO2
Roberts-SC phocomelia syndrome
0.800
Biomarker
BEFREE
Over 60% of CdLS patients examined have de novo mutations in either: SCC2/NIPBL, SMC1, or SMC3, whereas the causative gene in Roberts syndrome and SC Phocomelia has been identified as ESCO2 .
18786550
2008
×
Entrez Id:
157570
Gene Symbol:
ESCO2
ESCO2
Roberts-SC phocomelia syndrome
0.800
Biomarker
GENOMICS_ENGLAND
Cytogenetic findings in Roberts-SC phocomelia syndrome(s).
495649
1979
×
Entrez Id:
157570
Gene Symbol:
ESCO2
ESCO2
Roberts-SC phocomelia syndrome
0.800
Biomarker
BEFREE
Mutations in the cohesin regulators NIPBL and ESCO2 are causative of the Cornelia de Lange syndrome (CdLS) and Roberts or SC phocomelia syndrome , respectively.
17273969
2007
×
Entrez Id:
157570
Gene Symbol:
ESCO2
ESCO2
Roberts-SC phocomelia syndrome
0.800
Biomarker
CTD_human
Recently, mutations in ESCO2 (establishment of cohesion 1 homolog 2 ) on 8p21.1 have been reported in RBS .
16380922
2005
×
Entrez Id:
157570
Gene Symbol:
ESCO2
ESCO2
Roberts-SC phocomelia syndrome
0.800
Biomarker
BEFREE
Esco2 depleted zebrafish embryos exhibit features that resemble RBS , including mitotic defects, craniofacial abnormalities and limb truncations.
21637801
2011
×
Entrez Id:
157570
Gene Symbol:
ESCO2
ESCO2
Roberts-SC phocomelia syndrome
0.800
Biomarker
BEFREE
To our surprise and in marked contrast to RBS , mouse Esco2 turns out to be a cell viability factor, the absence of which results in severe chromosome segregation defects and apoptosis.
22614755
2012
×
Entrez Id:
157570
Gene Symbol:
ESCO2
ESCO2
Roberts-SC phocomelia syndrome
0.800
Biomarker
CTD_human
The present case demonstrates the prenatal diagnosis of RBS associated with a frameshift mutation in ESCO2 .
18186147
2008
×
Entrez Id:
9126
Gene Symbol:
SMC3
SMC3
Roberts-SC phocomelia syndrome
0.020
Biomarker
BEFREE
Over 60% of CdLS patients examined have de novo mutations in either: SCC2/NIPBL, SMC1, or SMC3 , whereas the causative gene in Roberts syndrome and SC Phocomelia has been identified as ESCO2.
18786550
2008