Table 3 IQ, BAPQ, and physical examination information of parents with CHD8 LGD mutations and the affected offspring
Sample ID | Mutation | Sex | Age | WAIS/WISC | BAPQ | HC (Z-score) | Height | Weight | BMI | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Verbal | Nonverbal | Full-scale | Aloof | Pragmatic | Rigid | Overall | ||||||||
GX0347.p1 | p.R1935* | M | 62 M | 31 | 26 | 21 | – | – | – | – | 52.5(1.15) | 126.2 | 25 | 15.6 |
GX0347.mo | p.R1935* | F | 29 Y | 88 | 75 | 80 | 3 | 2.79 | 3.54 | 3.11 | 57.3(2.48) | 161.7 | 67.5 | 25.8 |
GX0540.p1 | p.N855Tfs*14 | F | 163 M | – | – | 36 | – | – | – | – | 58.5(3.58) | 161.5 | 84 | 32.2 |
GX0540.fa | p.N855Tfs*14 | M | 42 Y | 95 | 79 | 87 | 2.88 | 3.21 | 3.88 | 3.32 | 58.7(1.53) | 167.8 | 71 | 25.22 |
HN0277.p1 | p.E2011Dfs*32 | F | 59 M | – | – | – | – | – | – | – | 53(2.26) | 112 | 20 | 15.9 |
HN0277.mo | p.E2011Dfs*32 | F | 26 Y | 88 | 75 | 80 | 2.79 | 2.88 | 3.92 | 3.19 | – | – | – | – |