|
Cornelia De Lange Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
This information, along with the patient's clinical presentation and the functional similarity between the HDAC2 and HDAC8 proteins, suggests that HDAC2 should be further investigated as a candidate gene for CdLS or a CdLS-like syndrome.
|
30806031 |
2019 |
|
Cornelia De Lange Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Cornelia de Lange syndrome (CdLS), a rare, multisystemic disorder, has been linked to genetic alterations in NIPBL, SMC1A, SMC3, HDAC8, and RAD21 genes.
|
30606125 |
2019 |
|
Cornelia De Lange Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Five CNVs involved syndrome loci: 7q11.23 microduplication, 16p13.11 microduplication, 18q terminal deletion, HDAC8 (Cornelia de Lange syndrome type 5 and FOXF1) as well as one intragenic deletion in GALNT14, not previously implicated in human disease.
|
30632303 |
2019 |
|
CORNELIA DE LANGE SYNDROME 5
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
|
30158690 |
2019 |
|
CORNELIA DE LANGE SYNDROME 5
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
|
30158690 |
2019 |
|
Cornelia De Lange Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Cornelia de Lange syndrome (CdLS) is a dominantly inherited developmental disorder caused by mutations in genes that encode for either structural (SMC1A, SMC3, RAD21) or regulatory (NIPBL, HDAC8) subunits of the cohesin complex.
|
29155047 |
2018 |
|
Cornelia De Lange Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Moreover our findings highlight the clinical utility of considering copy number analysis in HDAC8 as well as the analysis on DNA from more than one tissue as an indispensable part of the routine molecular diagnosis of individuals with CdLS or CdLS-overlapping features.
|
29279609 |
2018 |
|
Cornelia De Lange Syndrome
|
0.600 |
Biomarker
|
disease |
CLINGEN |
De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies.
|
29519750 |
2018 |
|
Cornelia De Lange Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The present study identified a novel missense mutation (c.806T>G, p.I269R) in the HDAC8 gene leading to CdLS, which not only provided strong evidence for diagnosis in this present patient, but also expanded the spectrum of pathogenic mutations for CdLS.
|
29991052 |
2018 |
|
Cornelia De Lange Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
NIPBL, SMC1A, SMC3, RAD21 and HDAC8, all involved in the cohesin pathway, have been identified to cause CdLS.
|
28588001 |
2017 |
|
Cornelia De Lange Syndrome
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Mutations in NIPBL, cohesin, and its deacetylase HDAC8 result in Cornelia de Lange syndrome.
|
26725122 |
2016 |
|
Cornelia De Lange Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Genetic variants within components of the cohesin complex (NIPBL, SMC1A, SMC3, RAD21, PDS5, ESCO2, HDAC8) are believed to be responsible for a spectrum of human syndromes known as "cohesinopathies" that includes Cornelia de Lange Syndrome (CdLS).
|
26206533 |
2016 |
|
Cornelia De Lange Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Most CdLS HDAC8 mutations trigger structural changes that directly or indirectly impact substrate binding and catalysis.
|
27576763 |
2016 |
|
Cornelia De Lange Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Given the high number of variants identified so far, we advise sequencing of HDAC8 as an indispensable part of the routine molecular diagnostic for patients with CdLS or CdLS-overlapping features.
|
26671848 |
2016 |
|
CORNELIA DE LANGE SYNDROME 5
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
|
CORNELIA DE LANGE SYNDROME 5
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.
|
27159028 |
2016 |
|
CORNELIA DE LANGE SYNDROME 5
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
|
CORNELIA DE LANGE SYNDROME 5
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.
|
26671848 |
2016 |
|
CORNELIA DE LANGE SYNDROME 5
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR.
|
26725122 |
2016 |
|
Cornelia De Lange Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Significantly, the catalytic activities of most mutants can be partially or fully rescued by the activator N-(phenylcarbamothioyl)-benzamide, suggesting that HDAC8 activators may serve as possible leads in the therapeutic management of CdLS.
|
26463496 |
2015 |
|
Cornelia De Lange Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), account for at least 70% of patients with CdLS or CdLS-like phenotypes.
|
25655089 |
2015 |
|
Cornelia De Lange Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Mutations in core cohesin subunits SMC1A, SMC3 and RAD21, or their regulators NIPBL and HDAC8, cause Cornelia de Lange syndrome (CdLS).
|
26581180 |
2015 |
|
Cornelia De Lange Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The genetic cause of CdLS is a mutation in one of five associated genes (NIPBL, SMC1A, SMC3, RAD21, and HDAC8) accounting for about 70% of cases.
|
25196272 |
2015 |
|
CORNELIA DE LANGE SYNDROME 5
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Large-scale discovery of novel genetic causes of developmental disorders.
|
25533962 |
2015 |
|
Cornelia De Lange Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Two genes (CREBBP and EP300) are known to cause RTS, and five (NIPBL, SMC1A, SMC3, RAD21, and HDAC8) have been associated with CdLS.
|
24352918 |
2014 |