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Refining the phenotype associated with MEF2C point mutations

neurogenetics volume 14, pages 71–75 (2013)Cite this article

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.

Author information

Affiliations

  1. CNRS UMR 8104, Institut Cochin, Laboratoire de Génétique des Maladies Neurodéveloppementales, Université Paris Descartes, Paris, France

    Thierry Bienvenu & Jamel Chelly

  2. Institut National de la Santé et de la Recherche Médicale (Inserm), U1016, Paris, France

    Thierry Bienvenu & Jamel Chelly

  3. Laboratoire de Biochimie et Génétique Moléculaire, Assistance Publique-Hôpitaux de Paris, Hôpital Cochin, Paris, France

    Thierry Bienvenu, Bertrand Diebold & Jamel Chelly

  4. Unité de Génétique Clinique, CHU Nantes, Nantes, France

    Bertrand Isidor

  5. Inserm U1016, Institut Cochin, Université Paris Descartes, 24 rue du Faubourg Saint Jacques, 75014, Paris, France

    Thierry Bienvenu

Authors
  1. Thierry Bienvenu
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  2. Bertrand Diebold
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  3. Jamel Chelly
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  4. Bertrand Isidor
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Corresponding author

Correspondence to Thierry Bienvenu.

Additional information

Accession numbers

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

Keywords

  • Mental retardation
  • Intellectual disability
  • MEF2C
  • Hand stereotypies