Supplementary Material for: Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome

We screened a cohort of 5 male and 20 female patients with a Rett spectrum disorder for mutations in the coding region of <i>FOXG1</i>, 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 <i>FOXG1</i> mutations in our cohort is 8%. Our findings stress the importance of <i>FOXG1</i> analysis in male patients with Rett syndrome and in female patients when mutations in the <i>MECP2</i> and <i>CDKL5 </i>genes have been excluded.