Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females

C Philippe (1) , D Amsallem (2) , C Francannet (3) , L Lambert (4) , A Saunier (1) , F Verneau (1) , P Jonveaux (1)

1 Service de Génétique Médicale [CHRU Nancy]
2 Service de Neuropédiatrie, Hôpital St Jacques, Besançon
3 Service de Génétique Médicale [CHU Clermont-Ferrand]
4 Service de Médecine Infantile I [CHRU Nancy]

The FOXG1 gene has been recently implicated in the congenital form of Rett syndrome (RTT). It encodes the Forkhead box protein G1, a winged-helix transcriptional repressor with expression restricted to testis and brain where it is critical for forebrain development. So far, only two point mutations in FOXG1 have been reported in females affected by the congenital form of RTT.

Mots clés: Genetics; Clinical genetics

C Philippe, D Amsallem, C Francannet, L Lambert, A Saunier, et al.. Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females. Journal of Medical Genetics, 2010, 47 (1), pp.59. ⟨10.1136/jmg.2009.067355⟩. ⟨hal-00552697⟩