| A FOXG1 mutation in a boy with congenital variant of Rett syndrome. | |
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MedLine Citation:
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PMID: 20734096 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Mutations in the FOXG1 gene have been shown to cause congenital variant of Rett syndrome. To date, point mutations have been reported only in female patients. We screened the entire coding region of the gene for mutations in 50 boys with congenital encephalopathy, postnatal microcephaly, and complex movement disorders, a clinical picture very similar to that described in girls with FOXG1 mutations. We found one boy carrying the de novo c.256_257dupC frameshift mutation. He presented the association of postnatal microcephaly, severe axial dystonia with severe feeding difficulties with protruding tongue movements during the first year of life that subsequently evolved into dyskinetic movement disorders with hand stereotypies. In contrast to his severe motor impairment, he developed nonverbal communication skills and relative good eye contact. Brain MRI showed frontal gyral simplification with dramatic myelination delay most prominent in both frontal lobes. Altogether the presentation in this male patient is highly reminiscent of that observed in FOXG1-mutated females with the congenital variant of Rett syndrome. This new case confirms the prediction that congenital variant of Rett syndrome should be found also in males, with the characteristic hallmarks consisting of postnatal microcephaly, dyskinetic movement disorder with Rett-like features, i.e., hand stereotypies, and frontal gyral simplification with myelination delay. FOXG1 screening should be considered in individuals with these clinical features. |
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Authors:
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Tangui Le Guen; Nadia Bahi-Buisson; Juliette Nectoux; Nathalie Boddaert; Yann Fichou; Bertrand Diebold; Isabelle Desguerre; Florence Raqbi; Valérie Cormier Daire; Jamel Chelly; Thierry Bienvenu |
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Publication Detail:
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Type: Journal Article Date: 2010-08-24 |
Journal Detail:
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Title: Neurogenetics Volume: 12 ISSN: 1364-6753 ISO Abbreviation: Neurogenetics Publication Date: 2011 Feb |
Date Detail:
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Created Date: 2011-01-28 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9709714 Medline TA: Neurogenetics Country: United States |
Other Details:
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Languages: eng Pagination: 1-8 Citation Subset: IM |
Affiliation:
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Institut Cochin, Inserm U1016, UMR8104, Université Paris Descartes, 24 rue du Faubourg St Jacques, 75014, Paris, France. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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