FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome

Francesca Ariani, Giuseppe Hayek, Dalila Rondinella, Rosangela Artuso, Maria Antonietta Mencarelli, Ariele Spanhol-Rosseto, Marzia Pollazzon, Sabrina Buoni, Ottavia Spiga, Sara Ricciardi, Ilaria Meloni, Ilaria Longo, Francesca Mari, Vania Broccoli, Michele Zappella, Alessandra Renieri

Research output: Contribution to journalArticlepeer-review


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 neuronal development, exhibiting partially overlapping expression domain in postnatal cortex and neuronal subnuclear localization.

Original languageEnglish
Pages (from-to)89-93
Number of pages5
JournalAmerican Journal of Human Genetics
Issue number1
Publication statusPublished - Jul 11 2008

ASJC Scopus subject areas

  • Genetics


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