Table 2. Rare variant enrichment analysis of MEF2C direct target gene-sets using data on DNMs, identified in patients with SCZ, ASD, ID and DD.
| Gene-Set | SCZ n = 3394 trios |
ASD n = 6430 trios |
ID/DD n = 4485 trios |
Unaffected Siblings n = 1995 |
|---|---|---|---|---|
| NSCs | ||||
| DELhet | ns | ns | ns | ns |
| DELhom | ns | Lof** | Mis**, Lof** | ns |
| DELhet_PB | ns | Lof* | ns | ns |
| DELhom _PB | ns | Lof* | Mis | ns |
| iNs | ||||
| DELhet | ns | ns | Mis* | ns |
| DELhom | Syn* | ns | Mis*, Lof* | ns |
| DELhet_PB | ns | ns | Mis** | ns |
| DELhom _PB | Lof* | Mis*, Lof* | Mis**, Lof** | ns |
Two asterisks (**) indicate significant enrichment for mutation type after Bonferroni correction, one asterisk (*) indicates significant enrichment for mutation type at nominal significance level and ns indicates non-significant for all classes of mutation tested. SCZ: Schizophrenia; ASD: Autism spectrum disorder; ID: Intellectual disability; DD: Developmental delay; Syn: Synonymous mutations, Mis: Missense mutations; Lof: Loss-of-function mutations; NSCs: Neural stem cells; iNs: Induced neurons; DELhom: Homozygous deletion; DELhet: Heterozygous deletion; PB: Proximal boundary (indirect mutation of MEF2C).