Table 1.
Summary of CHD8 mutations (from 5′ to 3′).
| Proband | Sex | Mutationb | HGVSc | Diagnosisd | Inheritance |
|---|---|---|---|---|---|
| 12714.p1a | M | Ns | p.Ser62X | ASD | de novo |
| 13986.p1a | M | Fs | p.Tyr747X | ASD | de novo |
| Nij023486 | F | Fs | p.Val984X | ID/ASD | inherited - maternal |
| APP_109580-100 | M | Ns | p.Glu1114X | ASD | de novo |
| 11654.p1a | F | Sp | c.3519-2A>G | ASD | de novo |
| 13844.p1a | M | Ns | p.Gln1238X | ASD | de novo |
| 14016.p1a | M | Ns | p.Arg1337X | ASD | de novo |
| Troina2659 | M | Fs | p.Glu1932SerfsX3 | DD/ID/ASD | de novo |
| 12991.p1a | M | Fs | p.Glu2103ArgfsX3 | ASD | de novo |
| 12752.p1a | F | Fs | p.Leu2120ProfsX13 | ASD | de novo |
| Troina2037 | F | Fs | p.Glu2136ArgfsX6 | ID | de novo |
| Nij010878 | M | Aa | p.Lys2287del | ID/ADHD | unknown |
| 14233.p1a | M | Fs | p.Asn2371LysfsX2 | ASD | de novo |
| 14406.p1a | M | Aa | p.His2498del | ASD | de novo |
| Gecz4801 | M | Mns | p.Arg910Gln | ID? | unknown |
| Leuven_445853 | M | Mns | p.Gly1710Val | ASD | inherited - maternal |
| Nij07-06646 | M | Mns | p.Arg1797Gln | ASD | inherited - paternal |
| T102.03 | F | CNV-dup | ASD | inherited - paternal | |
| 9883540 | CNV-dup | DD, Dysmorphic Features | unknown | ||
| 9873678 | CNV-dup | Mild ID | unknown |
a
Patient mutation was previously reported (O’Roak et al., 2012b).
b
Ns = nonsense; Fs = frameshift; Sp = splice; Aa = single amino acid deletion; Mns = missense-near-splice; CNV = copy number variant; dup = duplication.
c
HGVS = Human Genome Variant Sequence.
d
ASD = autism spectrum disorder; DD = developmental delay; ID = intellectual disability; ADHD = attention deficit hyperactivity disorder.