Table 1 Clinical presentation of patients with FOXG1 mutations and 14q12 deletions
Kumakura et al. 2014 | Byun et al. 2015 | Patients (n = 8) Cellini et al. 2015 | Patients (n = 7) Allou et al. 2012 | Patients (n = 2) Philippe et al. 2011 | Jacob et al. 2009 | Yeung et al. 2009 | Patients (n = 2) Ariani et al. 2008 | Papa et al. 2008 | Present case | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 2 | 3 | 4 | 4 cases with point mutations in FOXG1 | ||||||||||
Age (Y,M) | 8.0 | 8.0 | 9.0 | 3.6 | 2.0 | 10.0 | 2.6–17.0 | N/A | 22.0 and 10.0 | 3.0 | 9.0 | 22.0 and 7.0 | 7.0 | 0.6 |
Sex | M | F | F | M | F | F | 3 F, 1 M | 4 F, 3 M | F | F | F | F | F | F |
FOXG1 mutation on 14q12 CNV (Mb) | 0.54 Mb Del | 2.5 Mb Del | 2.5 Mb Del | 2.8 Mb Del | 9.1 Mb Del | 7.3 Mb Dup (de novo) | p.Gln100Serfs*92, p.Q46X, p.Glu154Glyfs*301, p.Gln86Argfs*106 (de novo) | 0.4–4.1 Mb | p.Trp308X and p.Tyr400X | 2.594 Mb Del | 4.45 Mb Dup | p.W255X and p.S323fsX325 | 3 Mb Del | 4,09 Del |
Genes involved in mutation or point mutations | FOXG1, C14orf23 (de novo) | FOXG1, C14orf23, PRKD1 (de novo) | FOXG1, C14orf23, PRKD1 | FOXG1, C14orf23, PRKD1, SCFD1, G2E3, COCH, STRN3 (de novo) | STXBP6, NOVA1, FOXG1, C14orf23, PRKD1, SCFD1, G2E3, COCH, STRN3, AP4S1, HECTD1, DTD2, NUBPL, ARHGAP5, AKAP, NPAS3 (de novo) | FOXG1 and 50 additional genes (de novo) | FOXG1 | Deletions in 5 cases, 3 of them distal to FOXG1 and 2 cases of point mutations involving FOXG1 | FOXG1 | FOXG1, C14orf23 | FOXG1, NOVA1, c14orf23, PRKD1, G2E3, SDFD, COCH | FOXG1 | FOXG1, PRKD1, SCFD1, G2E3, COCH, STRN3 | FOXG1, NOVA1 |
Postnatal microcephaly | yes | yes | yes | yes | yes | no | yes | yes | yes | yes | no | yes | yes | yes |
Psychomotor retardation | yes | yes | yes | yes | yes | yes | yes | yes | yes | yes | yes | yes | yes | yes |
Hypotonia | yes | no | yes | yes | yes | yes | 2/4 cases hypotonic | All except 1 case | 1/2 cases | yes | yes | yes | yes | Hypertonia |
Diskinesia | yes | yes | yes | yes | yes | yes | 3/4 cases diskinetic | 3/7 cases | yes | yes | yes | yes | yes | yes |
Speech | no | no | no | no | no | no | no | no | no | no | no | no | no | no |
Hand stereotypies | no | other sterotypies | yes | no | yes | yes | yes | 4/7 cases | yes | yes | hand flapping only | yes | yes | yes |
Corpus callosum hypogenesis | yes | no | yes | yes | yes | no | 3/4 cases with hypoplasia | brain abnormalities in all cases | 1/2 cases | no, brachycephaly observed | no | yes | no | no |
Seizures | yes | yes | yes | yes | yes | yes | yes | 5/7 cases | 1/2 cases | yes | yes | yes | yes | yes |
Developmental delay | yes | yes | yes | yes | yes | yes | yes | 5/7 cases | 1/2 cases | yes | yes | yes | yes | yes |