10.6084/m9.figshare.5122732.v1
Van der Aa N.
Van der Aa N.
Van den Bergh M.
Van den Bergh M.
Ponomarenko N.
Ponomarenko
N.
Verstraete L.
Verstraete
L.
Ceulemans B.
Ceulemans
B.
Storm K.
Storm
K.
Supplementary Material for: Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome
Karger Publishers
2011
Congenital variant
FOXG1 gene
Male patient
Rett syndrome
2011-08-09 00:00:00
Dataset
https://karger.figshare.com/articles/dataset/Supplementary_Material_for_Analysis_of_FOXG1_Is_Highly_Recommended_in_Male_and_Female_Patients_with_Rett_Syndrome/5122732
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.