%0 Generic %A Van der Aa N. %A Van den Bergh M. %A N., Ponomarenko %A L., Verstraete %A B., Ceulemans %A K., Storm %D 2011 %T Supplementary Material for: Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome %U https://karger.figshare.com/articles/dataset/Supplementary_Material_for_Analysis_of_FOXG1_Is_Highly_Recommended_in_Male_and_Female_Patients_with_Rett_Syndrome/5122732 %R 10.6084/m9.figshare.5122732.v1 %2 https://karger.figshare.com/ndownloader/files/8707879 %K Congenital variant %K FOXG1 gene %K Male patient %K Rett syndrome %X We screened a cohort of 5 male and 20 female patients with a Rett spectrum disorder for mutations in the coding region of FOXG1, previously shown to cause the congenital variant of Rett syndrome. Two de novo mutations were identified. The first was a novel missense mutation, p.Ala193Thr (c.577G>A), in a male patient with congenital Rett syndrome, and the second was the p.Glu154GlyfsX301 (c.460dupG) truncating mutation in a female with classical Rett syndrome, a mutation that was previously reported in an independent patient. The overall rate of FOXG1 mutations in our cohort is 8%. Our findings stress the importance of FOXG1 analysis in male patients with Rett syndrome and in female patients when mutations in the MECP2 and CDKL5 genes have been excluded. %I Karger Publishers