title: Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome.
abstract: 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.
authors.affiliation: Department of Medical Genetics, University and University Hospital Antwerp, Antwerp.
authors.forename: N
authors.initials: N
authors.lastname: Van der Aa
authors.forename: M
authors.initials: M
authors.lastname: Van den Bergh
authors.forename: N
authors.initials: N
authors.lastname: Ponomarenko
authors.forename: L
authors.initials: L
authors.lastname: Verstraete
authors.forename: B
authors.initials: B
authors.lastname: Ceulemans
authors.forename: K
authors.initials: K
authors.lastname: Storm