Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature.
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.
Jacob
Francois Dominique
FD
Division of Pediatric Neurology, University of Alberta, Edmonton, Alberta, Canada.
Ramaswamy
Vijay
V
Andersen
John
J
Bolduc
Francois V
FV
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*
C090173:FOXG1 protein, human; D051858:Forkhead Transcription Factors; D009419:Nerve Tissue Proteins