Table 1.
Demographic and genomic features of 23 subjects with FOXG1 deletions or mutations and 7 subjects with duplications. Chromosome 14 coordinates are hg18 with the exception of IS14-001 which is reported in hg19.
| Subject | Sex | Age at time of study | Genomic abnormality (chr14) or FOXG1 mutation |
|---|---|---|---|
| DB12-001 | M | 4 y 8 m | c.651C>G/p.Tyr217X |
| DB12-002 | F | 4 y 11 m | p.Gln86X |
| DB12-003 | F | 2 y 6 m | 6.4 Mb Del 26908842-33280997 |
| DB12-004 | F | 3 y 7 m | 1.1 Mb Del 27622465-28725069 |
| DB12-005 | M | 9 y 6 m | c.430G>T/p.Glu144X |
| DB12-006 | M | 6 y 4 m | c.460dupG/p.Glu154GlyfsX301 |
| DB12-008 | F | 1 y 7 m | 0.25 Mb Del 28116191-28370178 |
| DB12-009 | F | 16 y 3 m | c.460dupG/p.Glu154GlyfsX301 |
| DB12-015 | M | 6 y 11 m | c.133_469del377insACCCACCGCCCC |
| DB12-016 | M | 13 y 9 m | c.577G>A/p.Ala193Thr |
| DB12-017a1 | F | 9 y 8 m | c.515_577del63/p.Gly172_Met192del |
| DB12-017a2 | F | 6 y 10 m | c.515_577del63/p.Gly172_Met192del |
| DB13-006 | M | 3 y 11 m | c.506delG/p.Gly169AlafsX23 |
| DB13-007 | M | 3 y 7 m | c.586C>T/p.Gln196X |
| DB13-012 | F | 6 y 6 m | c.755G>T/p.Gly252Val |
| DB13-019 | M | 10 y | 4.1 Mb Del 26658715-30780974 |
| DB13-029a1 | F | 25 y 10 m | c.460dupG/p.Glu154GlyfsX301 |
| DB13-029a2 | M | 22 y | c.460dupG/p.Glu154GlyfsX301 |
| DB13-028 | M | 5 y 6 m | c.735delC/p.Tyr246ThrfsX80 |
| DB13-033 | M | 1 y 9 m | c.762G>C/p.Tyr254X |
| DB13-041 | M | 8 y 1 m | c.222_223dupGC/p.Pro75ArgfsX118 |
| DB13-052a1 | F | 5 y | c.460dupG/p.Glu154GlyfsX301 |
| DB13-052a2 | F | 5 y | c.460dupG/p.Glu154GlyfsX301 |
| IS09-009 | M | 9 y | 3.3 Mb Dup 26908812-30254928 |
| IS10-028 | F | 4 y | 3.0 Mb Dup 27165797-30192375 |
| DB12-013 | M | 1 y 5 m | 4.1 Mb Dup 26169335-30237575 |
| DB12-018 | M | 1 y 11 m | 15.6 Mb Dup 19528022-35193884 |
| DB13-005 | M | 1 y 2 m | 33.9 Mb Dup 21927637-55833232 |
| DB13-016 | M | 3 y | 13.3 Mb Dup 20555119-33885364 |
| IS14-001 | F | 2 y | 4.4 Mb Dup 26558014-30980441 |