Table 2

Clinical features of female patients with alterations in the FOXG1 gene

FeatureThis studyAriani et al11Shoichet et al16Bisgaard et al29Papa et al25Kamnasaran et al28
Patient 1Patient 2Case 1Case 2Case 3 (Grammatico et al26)Case 5 (Schuffenhauer et al27)
Mutationp.Trp308Xp.Tyr400Xp.Trp255Xp.Ser323fsX325t(2;14)(p22;q12) breakpoint in intron 32.65–3.5 Mb deletion and t(X;3)3.4 Mb deletion∼4 Mb deletion∼10 Mb deletion
Age at last clinical examination (years)2211227714773
Normal perinatal periodYesYesYesYesNoYesYes?No
Age of onset4 months6 months3 months3 months2 weeks7 months6 monthsfew months
Acquired microcephalyYesYesYesYesYesYesNo (present at birth)YesYes
Loss of voluntary hand useNoNo??????
Hand stereotypiesYesYesYesYes??Yes?No
Cognitive impairmentYes (severe)YesYesYesYes?YesYesYes
Autistic featuresYesYes??No?YesYes?
WalkingNoYes (at 2.5 years)NoNoNo?No?No
HypotoniaYesNo??No (muscle rigidity)?YesYesYes
Inappropriate laughingYesYes??????
Growth retardationYesNo????Yes (intrauterine)?Yes
Abdominal bloatingYesNo????Yes??
Breathing irregularitiesNoNoYesYes????
Cold feetNoNoYesYes??Yes?Yes
Brain malformationsYesNoYesYesYesNoNo?Yes
 Corpus callosumHypoplasiaHypoplasiaHypoplasiaAgenesis?Agenesis
 VentriclesEnlargementNoNoEnlargementYes (asymmetric)
Epilepsy (age of onset)Yes (2nd year)NoYes (14 years)Yes (21/2 years)Yes (?)NoYes (6 months)YesNo
MECP2/CDKL5 testedYes/YesYes/NoYes/YesYes/YesNo/NoNo/NoYes/YesNo/NoNo/No
  • Large deletions that were not precisely mapped by means of molecular analysis were not included.