Cornelia De Lange Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Missense variants and small in-frame deletions of SMC1A cause approximately 5% of Cornelia de Lange Syndrome (CdLS).
|
28166369 |
2017 |
Cornelia De Lange Syndrome
|
0.400 |
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
|
0.400 |
Biomarker
|
disease |
BEFREE |
In the second study, when a new set of NIPBL, SMC1A and non-CdLS patient photos was evaluated, the detection rate increased to 94%.
|
26663098 |
2016 |
Cornelia De Lange Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Cornelia de Lange syndrome (CdLS) is a dominantly inherited congenital malformation disorder, caused by mutations in the cohesin-loading protein NIPBL for nearly 60% of individuals with classical CdLS, and by mutations in the core cohesin components SMC1A (~5%) and SMC3 (<1%) for a smaller fraction of probands.
|
22885700 |
2012 |
Cornelia De Lange Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To date, 26 distinct SMC1A mutations have been identified in patients with Cornelia de Lange syndrome.
|
22140011 |
2012 |
Cornelia De Lange Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Our clinical and molecular findings expand the total number of characterized SMC1A-mutated patients (from 44 to 52) and the restricted repertoire of SMC1A mutations (from 29 to 34), contributing to the molecular and clinical signature of SMC1A-based CdLS.
|
24124034 |
2013 |
Cornelia De Lange Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Our results reveal that SMC1A gene defects are associated with milder phenotypes of CdLS.
|
26354354 |
2015 |
Cornelia De Lange Syndrome
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
We propose that SMC1A and SMC3 CdLS mutations affect the dynamic association between SMC proteins and DNA, providing new clues to the underlying molecular cause of CdLS.
|
18996922 |
2009 |
Cornelia De Lange Syndrome
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Our data indicate that SMC3 and SMC1A mutations (1) contribute to approximately 5% of cases of CdLS, (2) result in a consistently mild phenotype with absence of major structural anomalies typically associated with CdLS, and (3) in some instances, result in a phenotype that approaches that of apparently nonsyndromic mental retardation.
|
17273969 |
2007 |
Cornelia De Lange Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Cornelia de Lange syndrome (CdLS) is a rare, multiple congenital anomaly/mental retardation syndrome characterized by clinical variability and caused by mutations in the NIPBL (50-60%), SMC1L1 and SMC3 genes (5%), which encode for proteins involved in sister chromatid cohesion.
|
19690971 |
2009 |
Cornelia De Lange Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The SMC1A gene (Xp11.22), responsible for 5% of CdLS cases, partially escapes X chromosome inactivation in humans and the allele on the inactive X chromosome is variably expressed.
|
24756084 |
2014 |
Cornelia De Lange Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our data indicate that SMC3 and SMC1A mutations (1) contribute to approximately 5% of cases of CdLS, (2) result in a consistently mild phenotype with absence of major structural anomalies typically associated with CdLS, and (3) in some instances, result in a phenotype that approaches that of apparently nonsyndromic mental retardation.
|
17273969 |
2007 |
Cornelia De Lange Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Individuals with SMC1A variants can resemble CdLS, but manifestations are less marked compared to individuals with NIPBL variants: growth is less disturbed, facial signs are less marked (except for periocular signs and thin upper vermillion), there are no major limb anomalies, and they have a higher level of cognitive and adaptive functioning.
|
28548707 |
2017 |
Cornelia De Lange Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivo.
|
29860495 |
2018 |
Cornelia De Lange Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
At the functional level, elucidation of the effects that specific SMC1A mutations have on cohesin activity will be necessary to understand the etiopathology of CdLS and its possible involvement in tumorigenesis.
|
19842212 |
2010 |
Cornelia De Lange Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Cornelia de Lange Syndrome (CdLS) spectrum disorders are characterized by multiple organ system congenital anomalies that result from mutations in genes encoding core cohesin proteins SMC1A, SMC3, and RAD21, or proteins that regulate cohesin function such as NIPBL and HDAC8.
|
26463496 |
2015 |
Cornelia De Lange Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Cornelia de Lange syndrome (CdLS) is an autosomal dominant genetic disorder caused by pathogenic variants in NIPBL, RAD21, SMC3, HDAC8, or SMC1A; all of which code for proteins that are components of, or interact with, the cohesin complex.
|
30806031 |
2019 |
Cornelia De Lange Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Our results confirm that SMC1L1 mutations cause CdLS and support the view that SMC1L1 accounts for a significant fraction of boys with unexplained CdLS.
|
17221863 |
2007 |