Cited by 109Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalitiesEpilepsy research and treatment

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

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Paciorkowski, Alex R., Traylor, Ryan N., Rosenfeld, Jill A., Hoover, Jacqueline M., Harris, Catharine J., Winter, Susan, Lacassie, Yves, Bialer, Martin, Lamb, Allen N., Schultz, Roger A., Berry-Kravis, Elizabeth, Porter, Brenda E., Falk, Marni, Venkat, Anu, Vanzo, Rena J., Cohen, Julie S., Fatemi, Ali, Dobyns, William B., Shaffer, Lisa G., Ballif, Blake C., Marsh, Eric D.·2013·neurogenetics

DOI 10.1007/s10048-013-0356-yPMC PMC3773516

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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.

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Authors: Paciorkowski, A. R., Traylor, R. N., Rosenfeld, J. A., Hoover, J. M., Harris, C. J., Winter, S., Lacassie, Y., Bialer, M., Lamb, A. N., Schultz, R. A., Berry-Kravis, E., Porter, B. E., Falk, M., Venkat, A., Vanzo, R. J., Cohen, J. S., Fatemi, A., Dobyns, W. B., Shaffer, L. G., Ballif, B. C., & Marsh, E. D.
Affiliations: University of Rochester Medicine (US)
PerkinElmer (United States) (US)
University of Pittsburgh (US)
University of Missouri (US)
Children's Hospital Central California (US)
Children's Hospital of New Orleans (US)
Northwell Health (US)
University of Utah (US)
Stanford University (US)
Children's Hospital of Philadelphia (US)
Kennedy Krieger Institute (US)
University of Washington (US)
Corresponding author: Paciorkowski, Alex R.
ORCID: Paciorkowski, Alex R.
Rosenfeld, Jill A.
Hoover, Jacqueline M.
Harris, Catharine J.
Lacassie, Yves
Porter, Brenda E.
Falk, Marni
Vanzo, Rena J.
Cohen, Julie S.
Fatemi, Ali
Dobyns, William B.
Shaffer, Lisa G.
Marsh, Eric D.
Venue: neurogenetics
Publisher: Springer Science and Business Media LLC
Published: 2013-02-07
Volume: 14
Issue: 2
Pages: 99-111
ISSN: 1364-6745 (ISSN-L)
1364-6753
DOI: 10.1007/s10048-013-0356-y
PMC: PMC3773516
OpenAlex: W2140057847
Cited by: 109
References: 39
Citations by year: 2026: 7 · 2025: 8 · 2024: 9 · 2023: 9 · 2022: 7 · 2021: 9 · 2020: 8 · 2019: 7 · 2018: 6 · 2017: 11 · 2016: 10 · 2015: 11 · 2014: 7
FWCI: 6.19
Type: journal article
Language: en
Open access: green
europepmc.org
Licence: www.springer.com/tdm (tdm)
Locations: Neurogenetics (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
Funders: ARUP Laboratories
Medical Center, University of Rochester
National Institute of Neurological Disorders and Stroke (K08NS078054, K02NS065975, R01NS058721)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
Health Sciences › Medicine › Clinical Neurology › Epilepsy research and treatment
Keywords: hyperkinesia, epilepsy, intellectual disability, autism spectrum disorder, abnormal movements, infantile spasms, myoclonic seizures, forebrain development, GABAergic interneurons, ARX, FMR1 gene, MeCP2, Tbr1, neurodevelopmental disorders
MeSH terms: Adolescent, Adult, Animals, Child, Developmental Disabilities, Child, Preschool, Epilepsy, Female, Humans, Hyperkinesis, Infant, Interneurons, Male, Mice, Inbred C57BL, Middle Aged, Nerve Net, Phenotype, Gene Deletion, Mice, Young Adult, Haploinsufficiency, MEF2 Transcription Factors

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

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