MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.

Mark McIntosh,'s picture
PubMed URL: 
http://www.ncbi.nlm.nih.gov/pubmed/23389741
Author: 
Marsh ED
Author List: 
Paciorkowski AR
Traylor RN
Rosenfeld JA
Hoover JM
Harris CJ
Winter S
Lacassie Y
Bialer M
Lamb AN
Schultz RA
Berry-Kravis E
Porter BE
Falk M
Venkat A
Vanzo RJ
Cohen JS
Fatemi A
Dobyns WB
Shaffer LG
Ballif BC
Marsh ED
Journal: 
Neurogenetics
PubMed ID: 
23389741
Pagination: 
99-111
Volume: 
14
Issue: 
2
Abstract: 
MEF2C haploinsufficiency syndrome is an emerging neurodevelopmental disorder associated with intellectual disability, autistic features, epilepsy, and abnormal movements. We report 16 new patients with MEF2C haploinsufficiency, including the oldest reported patient with MEF2C deletion at 5q14.3. We detail the neurobehavioral phenotype, epilepsy, and abnormal movements, and compare our subjects with those previously reported in the literature. We also investigate Mef2c expression in the developing mouse forebrain. A spectrum of neurofunctional deficits emerges, with hyperkinesis a consistent finding. Epilepsy varied from absent to severe, and included intractable myoclonic seizures and infantile spasms. Subjects with partial MEF2C deletion were statistically less likely to have epilepsy. Finally, we confirm that Mef2c is present both in dorsal primary neuroblasts and ventral gamma-aminobutyric acid(GABA)ergic interneurons in the forebrain of the developing mouse. Given interactions with several key neurodevelopmental genes such as ARX, FMR1, MECP2, and TBR1, it appears that MEF2C plays a role in several developmental stages of both dorsal and ventral neuronal cell types.
Published Date: 
May, 2013

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