Source:http://linkedlifedata.com/resource/pubmed/id/19623215
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
12
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pubmed:dateCreated |
2009-11-20
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pubmed:abstractText |
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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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
1476-5438
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pubmed:author | |
pubmed:issnType |
Electronic
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pubmed:volume |
17
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1577-81
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pubmed:dateRevised |
2010-12-17
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pubmed:meshHeading |
pubmed-meshheading:19623215-Child, Preschool,
pubmed-meshheading:19623215-Chromosomes, Human, Pair 14,
pubmed-meshheading:19623215-Comparative Genomic Hybridization,
pubmed-meshheading:19623215-Female,
pubmed-meshheading:19623215-Forkhead Transcription Factors,
pubmed-meshheading:19623215-Gene Deletion,
pubmed-meshheading:19623215-Humans,
pubmed-meshheading:19623215-Infant,
pubmed-meshheading:19623215-Infant, Newborn,
pubmed-meshheading:19623215-Nerve Tissue Proteins,
pubmed-meshheading:19623215-Phenotype,
pubmed-meshheading:19623215-Pregnancy,
pubmed-meshheading:19623215-Rett Syndrome
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pubmed:year |
2009
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pubmed:articleTitle |
Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature.
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pubmed:affiliation |
Division of Pediatric Neurology, University of Alberta, Edmonton, Alberta, Canada.
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pubmed:publicationType |
Journal Article,
Review,
Case Reports
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