| Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature. | |
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MedLine Citation:
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PMID: 19623215 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Rett syndrome is a severe neurodegenerative disorder characterized by acquired microcephaly, communication dysfunction, psychomotor regression, seizures and stereotypical hand movements. Mutations in methyl CpG binding protein 2 (MECP2) are identified in most patients with classic Rett syndrome. Genetic studies in patients with a Rett variant have expanded the spectrum of underlying genetic etiologies. Recently, a deletion encompassing several genes in the long arm of chromosome 14 has been associated with the congenital Rett-syndrome phenotype. Using array-based comparative genomic hybridization, we identified a 3-year-old female with a Rett-like syndrome carrying a de novo single-gene deletion of FOXG1. Her presentation included intellectual disability, epilepsy and a Rett-like phenotype. The variant features included microcephaly at birth and prominent synophrys. Our results confirm that congenital Rett syndrome can be caused by copy-number variation in FOXG1 and expand the clinical phenotypic spectrum of FOXG1 defect in humans. |
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Authors:
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Francois Dominique Jacob; Vijay Ramaswamy; John Andersen; Francois V Bolduc |
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Publication Detail:
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Type: Case Reports; Journal Article; Review Date: 2009-07-22 |
Journal Detail:
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Title: European journal of human genetics : EJHG Volume: 17 ISSN: 1476-5438 ISO Abbreviation: Eur. J. Hum. Genet. Publication Date: 2009 Dec |
Date Detail:
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Created Date: 2009-11-20 Completed Date: 2010-01-20 Revised Date: 2010-12-17 |
Medline Journal Info:
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Nlm Unique ID: 9302235 Medline TA: Eur J Hum Genet Country: England |
Other Details:
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Languages: eng Pagination: 1577-81 Citation Subset: IM |
Affiliation:
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Division of Pediatric Neurology, University of Alberta, Edmonton, Alberta, Canada. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Child, Preschool Chromosomes, Human, Pair 14 / genetics Comparative Genomic Hybridization* Female Forkhead Transcription Factors / genetics* Gene Deletion* Humans Infant Infant, Newborn Nerve Tissue Proteins / genetics* Phenotype Pregnancy Rett Syndrome / genetics* |
| Chemical | |
Reg. No./Substance:
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0/FOXG1 protein, human; 0/Forkhead Transcription Factors; 0/Nerve Tissue Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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