Article
Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant.
Neurogenetics - 1 May 2010
Bahi-Buisson Nadia, Nectoux Juliette, Girard Benoit, Van Esch Hilde, De Ravel Thomy, Boddaert Nathalie, Plouin Perrine, Rio Marlene, Fichou Yann, Chelly Jamel, Bienvenu Thierry
Abstract excerpt
The Forkhead box G1 (FOXG1) is a transcription factor that is critical for forebrain development, where it promotes progenitor proliferation and suppresses premature neurogenesis. Recently, the FOXG1 gene was implicated in the molecular aetiology of the congenital variant of Rett syndrome. So far, 15 FOXG1 molecular alterations, including only eight point mutations, have been reported. We screened the FOXG1 gene...
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