Cornelia De Lange Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recently, an X-linked form of CdLS with a generally milder phenotype was attributed to mutation of the structural maintenance of chromosomes 1A gene (SMC1A) at Xp11.22.
|
22106055 |
2012 |
Cornelia De Lange Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
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 |
BEFREE |
SMC1A variants causing Cornelia de Lange syndrome (CdLS) produce another phenotype characterized by moderate to severe neurological impairment and severe early-onset epilepsy without morphological characteristics of CdLS.
|
31185419 |
2019 |
Cornelia De Lange Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Twenty-nine unrelated CdLS probands with 21 unique SMC1A mutations have been identified including seven males.
|
19701948 |
2009 |
Cornelia De Lange Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Hypertrophic cardiomyopathy has previously been reported in SMC1A-associated CdLS, but to our knowledge this is the first reported child with LVNC.
|
28102598 |
2017 |
Cornelia De Lange Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We include the case of a male with unilateral tibial hypoplasia and peroneal agenesis who had a mutation in NIPBL; we also describe one patient with a mutation in NIPBL and somatic mosaicism identified by new generation sequencing techniques; we also include one patient with CdLS and Turner syndrome; and last, an interesting patient with a duplication of the SMC1A gene.
|
27164022 |
2016 |
Cornelia De Lange Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We have performed MLPA analysis in a group of 11 children with the CdLS but without identifiable point mutations in the NIPBL and SMC1A genes.
|
20727427 |
2011 |
Cornelia De Lange Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
De novo missense mutations and in-frame coding deletions in the X-linked gene SMC1A (structural maintenance of chromosomes 1A), encoding part of the cohesin complex, are known to cause Cornelia de Lange syndrome in both males and females.
|
26752331 |
2016 |
Cornelia De Lange Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We describe a CdLS patient with classic severe phenotype who was found negative to mutations in the NIPBL and SMC1A genes by DHPLC and direct sequencing.
|
23313159 |
2013 |
Cornelia De Lange Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in three cohesin-associated genes encoding a key regulator (NIPBL, chr 5p13.2) and one structural component of the cohesin ring (SMC1A, chr Xp11) occur in about 65% of CdLS patients.
|
22353942 |
2012 |
Cornelia De Lange Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We also identified de novo heterozygous mutations in SMC3 or SMC1A that affected RNA splicing in 2 independent patients with combined CdLS and WDSTS features.
|
25574841 |
2015 |
Cornelia De Lange Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Cornelia de Lange Syndrome (CdLS) is a congenital autosomal dominant (NIPBL, SMC3 and RAD21) or X-linked (SMC1A and HDAC8) disorder characterized by facial dysmorphism, pre and postnatal growth retardation, developmental delay and/or intellectual disability, and multiorgan involvement.
|
24874887 |
2014 |
Cornelia De Lange Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes.
|
23106691 |
2012 |
Cornelia De Lange Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous point mutations in three genes (NIPBL, SMC3 and SMC1A), encoding components of the sister chromatid cohesion apparatus, are responsible for approximately 50-60% of CdLS cases.
|
19052029 |
2009 |
Cornelia De Lange Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Cornelia de Lange syndrome (CdLS) is a rare neurodevelopmental syndrome for which mutations in five causative genes that encode (SMC1A, SMC3, RAD21) or regulate (NIPBL, HDAC8) the cohesin complex, account for ~70% of cases.
|
29279609 |
2018 |
Cornelia De Lange Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This girl shared some morphologic and anthropometric traits described in patients with clinical diagnosis of Cornelia de Lange syndrome and with SMC1A mutation but also has severe encephalopathy with early-onset epilepsy.
|
26358754 |
2015 |
Cornelia De Lange Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Cornelia de Lange Syndrome (CdLS) is a multiple congenital anomaly disorder resulting from mutations in genes that encode the core components of the cohesin complex, SMC1A, SMC3, and RAD21, or two of its regulatory proteins, NIPBL and HDAC8.
|
25075551 |
2014 |
Cornelia De Lange Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, we report a patient that expands the clinical description of CdLS type 4 and presents with a novel RAD21 p.(Glu592del) variant that causes a disturbed RAD21-SMC1A interface according to in silco structural modeling.
|
30125677 |
2019 |
Cornelia De Lange Syndrome
|
0.400 |
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
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here, we identified numerous dysregulated genes occupied by cohesin by combining the transcriptome of CdLS cell lines carrying mutations in SMC1A gene and ChIP-Seq data.
|
26581180 |
2015 |
Cornelia De Lange Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in NIPBL, SMC1A and SMC3 genes account for ∼65% of individuals with CdLS.
|
20448023 |
2010 |
Cornelia De Lange Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Cornelia de Lange syndrome (CdLS) is a dominant multisystem developmental disorder and related to mutations of the NIPBL, SMC1A, and SMC3 genes.
|
22857006 |
2012 |
Cornelia De Lange Syndrome
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.
|
16604071 |
2006 |
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 |