Intellectual Disability
|
0.600 |
GeneticVariation
|
group |
BEFREE |
DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation.
|
31419599 |
2020 |
Intellectual Disability
|
0.600 |
AlteredExpression
|
group |
BEFREE |
Interestingly, mutations in all four genes (KDM5C, ARX, ZNF711 and PHF8) are associated with X-linked NDDs comprising intellectual disability as a core feature. in vitro analysis of the KDM5C promoter revealed that ARX and ZNF711 function as antagonist transcription factors that activate KDM5C expression and compete for the recruitment of PHF8.
|
31691806 |
2019 |
Intellectual Disability
|
0.600 |
Biomarker
|
group |
BEFREE |
Loss-of-function mutations in the histone demethylases KDM5A, KDM5B, or KDM5C are found in intellectual disability (ID) and autism spectrum disorders (ASD) patients.
|
30902578 |
2019 |
Intellectual Disability
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Mutations in <i>KDM5C</i> cause Mental Retardation, X-linked, Syndromic, Claes-Jensen type (MRXSCJ, OMIM #300534) and are one of the most common causes of X-linked ID.
|
29670509 |
2018 |
Intellectual Disability
|
0.600 |
Biomarker
|
group |
GENOMICS_ENGLAND |
We investigated a family of three boys with intellectual disability, and among them we identified two different mutations in KDM5C, located at Xp11.22, using whole-exome sequencing.
|
26919706 |
2016 |
Intellectual Disability
|
0.600 |
Biomarker
|
group |
GENOMICS_ENGLAND |
We investigated a family of three boys with intellectual disability, and among them we identified two different mutations in KDM5C, located at Xp11.22, using whole-exome sequencing.
|
26919706 |
2016 |
Intellectual Disability
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Here, we report on a female patient with severe ID and autistic features carrying a de novo 0.4 Mb deletion containing six coding genes including KDM5C and IQSEC2.
|
25858702 |
2015 |
Intellectual Disability
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Mutations in KDM5C are an important cause of X-linked intellectual disability in males.
|
25666439 |
2015 |
Intellectual Disability
|
0.600 |
GeneticVariation
|
group |
BEFREE |
To access the impact of KDM5C variants on XLID, a cohort of 143 males with a family history of intellectual disability (ID) suggestive of X-linked inheritance were enrolled.
|
24583395 |
2014 |
Intellectual Disability
|
0.600 |
Biomarker
|
group |
BEFREE |
Some genes were hit more than once in our cohort, suggesting they correspond to more frequent ID-associated conditions (KDM5C, MECP2, DYRK1A, TCF4).
|
25167861 |
2014 |
Intellectual Disability
|
0.600 |
Biomarker
|
group |
BEFREE |
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX.
|
23246292 |
2013 |
Intellectual Disability
|
0.600 |
GeneticVariation
|
group |
BEFREE |
A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability.
|
22326837 |
2012 |
Intellectual Disability
|
0.600 |
GeneticVariation
|
group |
BEFREE |
In this study, we describe clinical and genetic findings of a Brazilian family co-segregating a novel nonsense mutation (c.2172C>A) in exon 15 of KDM5C gene with the intellectual disability phenotype.
|
21575681 |
2011 |
Intellectual Disability
|
0.600 |
Biomarker
|
group |
CTD_human |
A de novo paradigm for mental retardation.
|
21076407 |
2010 |
Intellectual Disability
|
0.600 |
Biomarker
|
group |
BEFREE |
Intriguingly, mutations within the genes encoding the H3K9-specific methyltransferase, EHMT1, and the H3K4-specific histone demethylase, JARID1C/SMCX, have been linked to mental retardation and autism, respectively.
|
18814864 |
2009 |
Intellectual Disability
|
0.600 |
Biomarker
|
group |
GENOMICS_ENGLAND |
Mutation analysis of the JARID1C gene was conducted in the following cohorts: probands from 23 XLMR families linked to Xp11.2, 92 males with mental retardation and short stature, and 172 probands from small XLMR families with no linkage information.
|
18697827 |
2008 |
Intellectual Disability
|
0.600 |
GeneticVariation
|
group |
LHGDN |
Mutation analysis of the JARID1C gene was conducted in the following cohorts: probands from 23 XLMR families linked to Xp11.2, 92 males with mental retardation and short stature, and 172 probands from small XLMR families with no linkage information.
|
18697827 |
2008 |
Intellectual Disability
|
0.600 |
GeneticVariation
|
group |
BEFREE |
A novel mutation in JARID1C gene associated with mental retardation.
|
16538222 |
2006 |