4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment.
Microdeletions at 14q12 that include FOXG1, or loss of function mutations in FOXG1, are associated with the congenital variant of Rett syndrome. By SNP microarray analysis we identified a corresponding microduplication at 14q12 in a nine year old girl with symptomatic generalised epilepsy, severe intellectual impairment, and minor dysmorphisms, but without microcephaly. The 14q12 microduplication comprised 4.45 Mb of DNA and included FOXG1. This is the first report of duplication involving FOXG1 and suggests a dosage sensitive role for FOXG1 in brain development.
Yeung
Alison
A
Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Australia.
Bruno
Damien
D
Scheffer
Ingrid E
IE
Carranza
Daniel
D
Burgess
Trent
T
Slater
Howard R
HR
Amor
David J
DJ
D002648:Child; D002871:Chromosome Banding; D002883:Chromosomes, Human, Pair 14; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D020440:Gene Duplication; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*
C090173:FOXG1 protein, human; D051858:Forkhead Transcription Factors; D009419:Nerve Tissue Proteins