Somatic mosaicism for a FOXG1 mutation: diagnostic implication.

To the Editor : In 2005, Shoichet et al. reported a girl exhibiting severe cognitive disability with a balanced de novo translocation that disrupts the winged-helix transcription factor forkhead box G1 (FOXG1 ) gene (1). Later, three 14q12 interstitial deletions including FOXG1 were identified in patients with intellectual disability, epilepsy, microcephaly… (More)