Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.

@article{Zweier2010MutationsIM,
  title={Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.},
  author={Markus Zweier and Anne Gregor and Christiane Zweier and Hartmut Engels and Heinrich Sticht and Eva Wohlleber and Emilia K. Bijlsma and Susan E. Holder and Martin Zenker and Eva Rossier and Ute Grasshoff and Diana S. Johnson and Lisa Robertson and Helen V. Firth and Arif B. Ekici and Andr{\'e} Reis and Anita Rauch},
  journal={Human mutation},
  year={2010},
  volume={31 6},
  pages={722-33}
}
The etiology of mental retardation remains elusive in the majority of cases. Microdeletions within chromosomal bands 5q14.3q15 were recently identified as a recurrent cause of severe mental retardation, epilepsy, muscular hypotonia, and variable minor anomalies. By molecular karyotyping we identified two novel 2.4- and 1.5-Mb microdeletions of this region in patients with a similar phenotype. Both deletions contained the MEF2C gene, which is located proximally to the previously defined smallest… CONTINUE READING
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