Molecular Syndromology | |
Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome | |
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
【 预 览 】
Files | Size | Format | View |
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RO201911300010775ZK.pdf | 154KB | download |