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Title
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Analysis of **FOXG1** is highly recommended in male and female patients with Rett syndrome
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Author
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Abstract
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| 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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Language
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English
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Source (journal)
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Molecular syndromology
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Publication
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2010
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ISSN
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1661-8769
1661-8777
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DOI
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10.1159/000330755
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Volume/pages
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1
:6
(2010)
, p. 290-293
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Full text (Publisher's DOI)
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