MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways
| Autor: | William B. Dobyns, Susan Winter, Ryan N. Traylor, Rena J. Vanzo, Julie S. Cohen, Martin G. Bialer, Eric D. Marsh, Blake C. Ballif, Alex R. Paciorkowski, Ali Fatemi, Yves Lacassie, Roger A. Schultz, Brenda E. Porter, Jacqueline M. Hoover, Elizabeth Berry-Kravis, Anu Venkat, Jill A. Rosenfeld, Catharine J. Harris, Allen N. Lamb, Lisa G. Shaffer, Marni J. Falk |
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| Rok vydání: | 2012 |
| Předmět: |
Adult
Male Adolescent Developmental Disabilities Haploinsufficiency Hyperkinesis Article MECP2 Cellular and Molecular Neuroscience Epilepsy Mice Young Adult Neurodevelopmental disorder Interneurons Intellectual disability Genetics medicine Animals Humans Child Genetics (clinical) biology MEF2 Transcription Factors Infant Middle Aged medicine.disease Mice Inbred C57BL Phenotype nervous system Child Preschool Forebrain biology.protein Female TBR1 Nerve Net Neuroscience Gene Deletion |
| Zdroj: | Neurogenetics. 14(2) |
| ISSN: | 1364-6753 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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