Abstract
Up to now, only five-point mutations in the MEF2C gene have been described in patients with severe mental retardation with absent speech, limited walking abilities, epilepsy, and lack of gross malformations. In brain, MEF2C is essential for early neurogenesis, neuronal migration, and differentiation. Here, we present a new patient with severe mental retardation, epilepsy, and hand stereotypies associated with a novel MEF2C frameshift mutation c.457delA. The purpose of this work was to clarify criteria for the selection of patients with severe intellectual disability to screen for deficiency in the MEF2C gene. By combining the clinical data of all patients with MEF2C point mutations published so far with the phenotype of our patient, a targeted search for MEF2C mutations could be applied to patients with a severe intellectual deficiency associated with absence of language and hypotonia, strabismus, and epilepsy (started after 6 months, often well controlled by valproate).
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Acknowledgments
We thank the families for their cooperation. We are particularly grateful to the patient and her family who participated to this report. This work was supported by the “Institut National de la Santé et de la Recherche Médicale” (INSERM) and by “Fondation Jérome Lejeune”.
Competing interests
The authors declare that they have no conflict of interest with regard to the above study.
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NCBI accessions NM_002397.4 and NP_002388 were used to number mutations within the MEF2C gene and MEF2C protein.
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Bienvenu, T., Diebold, B., Chelly, J. et al. Refining the phenotype associated with MEF2C point mutations. Neurogenetics 14, 71–75 (2013). https://doi.org/10.1007/s10048-012-0344-7
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DOI: https://doi.org/10.1007/s10048-012-0344-7