KLEEFSTRA SYNDROME 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The microdeletions cause Kleefstra syndrome (KS), whose responsible gene is EHMT1.
|
31209758 |
2019 |
KLEEFSTRA SYNDROME 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Summarized, we demonstrate a direct link between EHMT1 deficiency and NMDAR hyperfunction in human neurons, providing a potential basis for more targeted therapeutic approaches for KS.
|
31666522 |
2019 |
KLEEFSTRA SYNDROME 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Kleefstra syndrome is a rare neurogenetic disorder caused by a subtelomeric 9q34.3 deletion or by an intragenic mutation of the euchromatin histone methyl transferase 1 gene (EHMT1).
|
31750954 |
2019 |
KLEEFSTRA SYNDROME 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Kleefstra syndrome (KS) is a rare genetic condition resulting from either 9q34.3 microdeletions or mutations in the EHMT1 gene located in the same genomic region.
|
30448833 |
2018 |
KLEEFSTRA SYNDROME 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Although EHMT1 and its paralog EHMT2 were shown to be histone methyltransferases responsible for deposition of the di-methylated H3K9 (H3K9me2), the exact nature of epigenetic dysfunctions in Kleefstra syndrome remains unknown.
|
29554304 |
2018 |
KLEEFSTRA SYNDROME 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Most of the EHMT1 mutations are frameshift or nonsense mutations, but two individuals with KS were reported to possess EHMT1 missense mutations.
|
29459631 |
2018 |
KLEEFSTRA SYNDROME 1
|
1.000 |
PosttranslationalModification
|
disease |
BEFREE |
Although EHMT1 and its paralog EHMT2 were shown to be histone methyltransferases responsible for deposition of the di-methylated H3K9 (H3K9me2), the exact nature of epigenetic dysfunctions in Kleefstra syndrome remains unknown.
|
29554304 |
2018 |
KLEEFSTRA SYNDROME 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations or deletions of the human Euchromatin Histone Methyltransferase 1 (EHMT1) gene are the main causes of Kleefstra syndrome, a neurodevelopmental disorder that is characterized by impaired memory, autistic features and mostly severe intellectual disability.
|
28071689 |
2017 |
KLEEFSTRA SYNDROME 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This is the first report to suggest that missense variants in EHMT1 that lead to protein misfolding and disrupted histone mark binding can lead to KS.
|
28057753 |
2017 |
KLEEFSTRA SYNDROME 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Previously, an autism spectrum disorder (ASD) patient with Kleefstra syndrome (KS-ASD) carrying a deleterious premature termination codon mutation in the EHMT1 gene was identified.
|
28742076 |
2017 |
KLEEFSTRA SYNDROME 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Exome sequencing identified a novel, de novo splice site variant NM_024757.4: c.2750-1G>T in EHMT1, a candidate gene for Kleefstra syndrome, in the patient that results in exon skipping and downstream frameshift and termination.
|
28361099 |
2017 |
KLEEFSTRA SYNDROME 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Previously, an autism spectrum disorder (ASD) patient with Kleefstra syndrome (KS-ASD) carrying a deleterious premature termination codon mutation in the EHMT1 gene was identified.
|
28742076 |
2017 |
KLEEFSTRA SYNDROME 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Kleefstra Syndrome (KS) (MIM# 610253) is an autosomal dominant disorder caused by haploinsufficiency of euchromatic histone methyltransferase-1 (<i>EHMT1,</i> GLP).
|
28361100 |
2017 |
KLEEFSTRA SYNDROME 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Kleefstra Syndrome (KS) (MIM# 610253) is an autosomal dominant disorder caused by haploinsufficiency of euchromatic histone methyltransferase-1 (<i>EHMT1,</i> GLP).
|
28361100 |
2017 |
KLEEFSTRA SYNDROME 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
The novel mutation detected in the EHMT1 gene is responsible for KS's symptoms.
|
27651234 |
2016 |
KLEEFSTRA SYNDROME 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The novel mutation detected in the EHMT1 gene is responsible for KS's symptoms.
|
27651234 |
2016 |
KLEEFSTRA SYNDROME 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
These data suggest that the developmental impairments observed in EHMT1-deficient networks may result in a temporal misalignment between activity-dependent developmental processes thereby contributing to the pathophysiology of Kleefstra syndrome.
|
27767173 |
2016 |
KLEEFSTRA SYNDROME 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The novel mutation detected in the EHMT1 gene is responsible for KS's symptoms.
|
27651234 |
2016 |
KLEEFSTRA SYNDROME 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These data suggest that the developmental impairments observed in EHMT1-deficient networks may result in a temporal misalignment between activity-dependent developmental processes thereby contributing to the pathophysiology of Kleefstra syndrome.
|
27767173 |
2016 |
KLEEFSTRA SYNDROME 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Establishment of EHMT1 mutant induced pluripotent stem cell (iPSC) line from a 11-year-old Kleefstra syndrome (KS) patient with autism and normal intellectual performance.
|
27789404 |
2016 |
KLEEFSTRA SYNDROME 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
KLEEFSTRA SYNDROME 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing.
|
25081361 |
2015 |
KLEEFSTRA SYNDROME 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Lastly, we found that Ehmt1(+/-) mice showed brachycephalic crania, a shorter or bent nose, and hypertelorism, reminiscent of the craniofacial dysmorphisms seen in KS.
|
24362066 |
2014 |
KLEEFSTRA SYNDROME 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring.
|
23232695 |
2013 |
KLEEFSTRA SYNDROME 1
|
1.000 |
Biomarker
|
disease |
MGD |
These data demonstrate that Ehmt1 haploinsufficiency in mice leads to learning deficits and synaptic dysfunction, providing a possible mechanism for the ID phenotype in patients with KS.
|
23175442 |
2013 |