title: Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature.
abstract: 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.affiliation: Division of Pediatric Neurology, University of Alberta, Edmonton, Alberta, Canada.
authors.forename: Francois Dominique
authors.initials: FD
authors.lastname: Jacob
authors.forename: Vijay
authors.initials: V
authors.lastname: Ramaswamy
authors.forename: John
authors.initials: J
authors.lastname: Andersen
authors.forename: Francois V
authors.initials: FV
authors.lastname: Bolduc
mesh_terms: D002675:Child, Preschool; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D011247:Pregnancy; D015518:Rett Syndrome / Q000235:genetics*
chemical_list: C090173:FOXG1 protein, human; D051858:Forkhead Transcription Factors; D009419:Nerve Tissue Proteins