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Mol Syndromol. 2011 Sep;1(6):290-293. Epub 2011 Aug 9.

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

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1
Department of Medical Genetics, University and University Hospital Antwerp, Antwerp.

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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