Document Detail


Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature.
MedLine Citation:
PMID:  19623215     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Francois Dominique Jacob; Vijay Ramaswamy; John Andersen; Francois V Bolduc
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Publication Detail:
Type:  Case Reports; Journal Article; Review     Date:  2009-07-22
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  17     ISSN:  1476-5438     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2009 Dec 
Date Detail:
Created Date:  2009-11-20     Completed Date:  2010-01-20     Revised Date:  2013-06-02    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  1577-81     Citation Subset:  IM    
Affiliation:
Division of Pediatric Neurology, University of Alberta, Edmonton, Alberta, Canada.
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MeSH Terms
Descriptor/Qualifier:
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:
0/FOXG1 protein, human; 0/Forkhead Transcription Factors; 0/Nerve Tissue Proteins
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