Severe intellectual disability
|
0.180 |
GeneticVariation
|
disease |
BEFREE |
Severe intellectual disability with inability to speak and epilepsy are universal features in patients with MEF2C mutations, although mild cognitive and speech disorders have been reported to occur in patients with duplications.
|
27255693 |
2016 |
Severe intellectual disability
|
0.180 |
GeneticVariation
|
disease |
BEFREE |
Partial MEF2C deletion in a Cypriot patient with severe intellectual disability and a jugular fossa malformation: review of the literature.
|
25691421 |
2015 |
Severe intellectual disability
|
0.180 |
GeneticVariation
|
disease |
BEFREE |
5q14.3 deletions spanning and flanking MEF2C as well as intragenic MEF2C mutations have recently been described as a cause of severe intellectual disability, epilepsy, and muscular hypotonia, with variable brain and other anomalies.
|
23824879 |
2013 |
Severe intellectual disability
|
0.180 |
Biomarker
|
disease |
BEFREE |
The purpose of this work was to clarify criteria for the selection of patients with severe intellectual disability to screen for deficiency in the MEF2C gene.
|
23001426 |
2013 |
Severe intellectual disability
|
0.180 |
CausalMutation
|
disease |
CLINVAR |
Refining the phenotype associated with MEF2C point mutations.
|
23001426 |
2013 |
Severe intellectual disability
|
0.180 |
AlteredExpression
|
disease |
BEFREE |
We speculate that the translocation may disrupt the proper regulation of MEF2C expression in the developing brain, resulting in severe intellectual disability and early-onset epileptic encephalopathy.
|
21990267 |
2011 |
Severe intellectual disability
|
0.180 |
CausalMutation
|
disease |
CLINVAR |
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.
|
19592390 |
2010 |
Severe intellectual disability
|
0.180 |
GeneticVariation
|
disease |
BEFREE |
We therefore performed mutational analysis in 362 patients with severe mental retardation and found two truncating and two missense de novo mutations in MEF2C, establishing defects in this transcription factor as a novel relatively frequent autosomal dominant cause of severe mental retardation accounting for as much as 1.1% of patients.
|
20513142 |
2010 |
Severe intellectual disability
|
0.180 |
Biomarker
|
disease |
BEFREE |
These deletions further support that haploinsufficiency of MEF2C is responsible for severe mental retardation, seizures, and hypotonia.
|
20333642 |
2010 |
Severe intellectual disability
|
0.180 |
CausalMutation
|
disease |
CLINVAR |
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
|
20513142 |
2010 |
Severe intellectual disability
|
0.180 |
Biomarker
|
disease |
BEFREE |
Taken together, these results strongly suggest that haploinsufficiency of MEF2C is responsible for severe mental retardation with stereotypic movements, seizures and/or cerebral malformations.
|
19592390 |
2010 |
Severe intellectual disability
|
0.180 |
CausalMutation
|
disease |
CLINVAR |
Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder.
|
19876902 |
2009 |
Severe intellectual disability
|
0.180 |
Biomarker
|
disease |
HPO |
|
|
|