| FOXG1 intragenic missense mutations [17] | FOXG1 intragenic truncating mutations [17] | Balanced translocations or microdeletions [11] | Microduplications involving FOXG1 [11] | Balanced Translocation (this study) |
---|---|---|---|---|---|
Forkhead cs1 missense | N-terminal nonsense or frameshift | Enhancer disruption | Increased dosage | Enhancer disruption | |
Sample size of each study | 12 | 37 | 16 | 9 | 1 |
Genetic test | Sequencing | Sequencing | Karyotyping and FISHa | Array and FISH | Karyotyping and FISHa |
Severe intellectual disability | 100%; 12/12 | 100%; 37/37 | 100%; 11/11 | 10%; 1/9 | + |
HC at follow-up (< − 2 SD) | 50%; 5/10 | 96%; 23/24 | 100%; 11/11 (postnatal microcephaly) | 22%; 2/9 (postnatal microcephaly) | + |
HC at birth (< 2 SD) | 13%; 1/8 | 33%; 6/18 | NA | NA | NA |
No walking (absent) | 33%; 4/12 | 91%; 31/34 | 100%; 11/11 | 0%; 0/9 | + |
No verbal speech | 67%; 8/12 | 86%; 30/35 | 100%; 11/11 | 78%; 7/9 | + |
Social interaction | 13%; 1/8 (poor) | 38%; 12/31 (6 absent; 6 poor) | 100%; 7/7 (poor) | NA | + |
Abnormal sleep pattern | 57%; 4/7 | 70%; 16/23 | 75%; 3/4 | 22%; 2/9 | + |
Inappropriate laughing | 43%; 3/7 | 43%; 9/21 | 100%; 4/4 | 11%; 1/9 | + |
Bruxism | 71%; 5/7 | 88%; 14/16 | 89%; 8/9 | NA | − |
Strabismus | 50%; 4/8 | 95%; 19/20 | 88%; 7/8 | 11%; 1/9 | + |
Epilepsy | 75%; 9/12 | 81%; 29/36 | 90%; 9/10 | 56%; 5/9 | + |
Stereotypic movements | 75%; 6/8 | 85%; 23/27 | 100%; 7/7 | 22%; 2/9 | + |
Feeding difficulties | 75%; 6/8 | 100%; 21/21 | 100%; 8/8 | NA | + |
Corpus callosum anomalies | 33%; 3/9 | 83%; 20/24 | 90%; 9/10 (hypogenesis) | NA | −b |