present in Gene: MEF2C
present in Chromosome: 5
Position on Chromosome: 88804642
Alleles of this Variant: A/-
rs1554139723 in
MEF2C gene and
Dysmorphic features
PMID 19592390 2010 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.
PMID 17959722 2007 MEF2: a central regulator of diverse developmental programs.
PMID 18579729 2008 Myocyte enhancer factor 2C as a neurogenic and antiapoptotic transcription factor in murine embryonic stem cells.
PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.
PMID 27255693 2016 MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review.
PMID 23389741 2013 MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.
PMID 22498567 2012 Genetic analysis of essential cardiac transcription factors in 256 patients with non-syndromic congenital heart defects.
PMID 19471318 2009 A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.
PMID 22670137 2012 The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome.
PMID 20513142 2010 Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.