Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report.
Kevin YauyAnouck SchneiderBee Ling NgJean-Baptiste GaillardSatish SatiChristine CoubesConstance WellsMagali TournaireThomas GuignardPauline BouretDavid GenevièveJacques PuechbertyFranck PellestorVincent GatinoisPublished in: BMC medical genomics (2019)
Pathogenicity of MEF2C overexpression is still unclear as only four patients with mild intellectual deficiency carrying 5q14.3 microduplications containing MEF2C are described in the literature. The microduplications in these individuals also contain other genes expressed in the brain. The patient presented the same phenotype as 5q14.3 microduplication patients. We report the first case of a balanced translocation leading to an overexpression of MEF2C similar to a functional duplication.
Keyphrases
- intellectual disability
- transcription factor
- genome wide
- cell proliferation
- end stage renal disease
- autism spectrum disorder
- ejection fraction
- chronic kidney disease
- newly diagnosed
- systematic review
- gene expression
- genome wide identification
- dna damage
- peritoneal dialysis
- resting state
- white matter
- escherichia coli
- copy number
- patient reported outcomes
- functional connectivity
- oxidative stress
- pseudomonas aeruginosa
- brain injury
- blood brain barrier
- cystic fibrosis