FOXG1 is responsible for the congenital variant of Rett syndrome.

@article{Ariani2008FOXG1IR,
  title={FOXG1 is responsible for the congenital variant of Rett syndrome.},
  author={Francesca Ariani and Giuseppe Hayek and Dalila Rondinella and Rosangela Artuso and Maria Antonietta Mencarelli and Ariele Spanhol-Rosseto and Marzia Pollazzon and Sabrina Buoni and Ottavia Spiga and Sara Ricciardi and Ilaria Meloni and Ilaria Longo and Francesca Mari and Vania Broccoli and Michele M. Zappella and Alessandra Renieri},
  journal={American journal of human genetics},
  year={2008},
  volume={83 1},
  pages={
          89-93
        }
}
Rett syndrome is a severe neurodevelopmental disease caused by mutations in the X-linked gene encoding for the methyl-CpG-binding protein MeCP2. Here, we report the identification of FOXG1-truncating mutations in two patients affected by the congenital variant of Rett syndrome. FOXG1 encodes a brain-specific transcriptional repressor that is essential for early development of the telencephalon. Molecular analysis revealed that Foxg1 might also share common molecular mechanisms with MeCP2 during… CONTINUE READING
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