Table 1.
Genetic and demographic information for PMS probands and unaffected siblings
| PMS proband | Unaffected sibling | Genetic and genomic characterization of SHANK3 mutation | ||||||
|---|---|---|---|---|---|---|---|---|
| Family ID | Age (yrs) |
Sex | Age (yrs) |
Sex | Mutation type | Minimal deletion size | Chromosomal location | Genes within deletion on chr22 |
| 1 | 5 | F | 3 | F | Frameshift | N/A | chr22:51160837-51160839 GCC/G | SHANK3 |
| 2 | 13 | F | 6 | F | Deletion | 42 kb | chr22:51,132,839-51,175,792 | SHANK3 |
| 3 | 25 | F | 19 | M | Deletion | 43 kb | chr22:51,132,839-51,176,002 | SHANK3 |
| 4 | 3 | M | 1 | F | Deletion | 62 kb | chr22:51,121,360-51,183,840 | SHANK3, ACR |
| 5 | 3 | M | 6 | F | Deletion | 85 kb | chr22:51,086,931-51,172,228 | SHANK3, ACR, RABL2B |
| 6 | 4 | F | 6 | M | Deletion | 4.98 Mb | chr22:46316673-51,304,566 | 109 genes (see Table S1) |
| 7 | 9 | F | 12 | M | Deletion | 6.9 Mb | chr22:44321641-51,304,566* | 167 genes (see Table S1) |
hiPSC-NPCs could not be generated for unaffected sibling from family ID 2. Family 6 is of Asian ancestry and the remaining families are of European ancestry