Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome

Molecular Syndromology

L. Verstraete¹  N. Van der Aa¹  M. Van den Bergh¹  N. Ponomarenko¹  B. Ceulemans¹  K. Storm¹ 

[1] aDepartment of Medical Genetics, University and University Hospital Antwerp, Antwerp

关键词: Congenital variant;    FOXG1 gene;    Male patient;    Rett syndrome;   

DOI  :  10.1159/000330755

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

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.

【 授权许可】

Unknown