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. 2011 Sep;1(6):290-293.
doi: 10.1159/000330755. Epub 2011 Aug 9.

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

N Van der Aa  1 , M Van den Bergh, N Ponomarenko, L Verstraete, B Ceulemans, K Storm
Affiliations

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

N Van der Aa et al. Mol Syndromol. 2011 Sep.

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.

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Figures

Fig. 1
Fig. 1
Mutations in FOXG1 identified to date. The 2 mutations found in male patients are indicated at the top. Missense mutations are indicated in red, the mutations identified in this study are indicated in italics. FBD = Forkhead-binding domain; GBD = Groucho-binding domain; JBD = JARID1B-binding domain.
Fig. 2
Fig. 2
Clinical pictures of our male patient with congenital Rett syndrome and a missense mutation in FOXG1 at the age of 2.5 years.
See this image and copyright information in PMC

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