Table 1.
Patient characteristics.
| UPN | Age at sample collection (yrs) | DNMT3A mut | Gender | Growth phenotype | Behavioral/intellectual | History of cancer |
|---|---|---|---|---|---|---|
| 624400 | 9 | R882H | M | Overgrowth | Global developmental delay, IQ 50 | No |
| 154605 | 1.7 | R882H | F | Overgrowth | Global developmental delay, limited vocab | No |
| 894912 | 16, in AML remission | R882C | F | Overgrowth | Global developmental delay | AML, FAB M4, age 12 |
| 411168 | 17 | C583Y | M | Overgrowth | Autism, IQ 40 | No |
| 511909 | 5 | R301W | M | Overgrowth | Autism, developmental delay | No |
| 228211 | 34 | F414fsTer7 | M | Overgrowth | ADHD, panic disorder, intellectual delay | Dermatofibrosarcoma age 20 (excision) |
| 295041 | 36 | R736H | F | Overgrowth | OCD, Depression, anxiety | No |
| 930075 | 16 | R688H | F | Overgrowth | Global developmental delay | No |
| 723972 | 3 | Y660H | M | Overgrowth | Global developmental delay | No |
| 518693 | 5 | 135 kb del | M | Overgrowth | ADHD, autism spectrum disorder | No |
| 786396 | 16 | I310N | F | Overgrowth | ADD, Autism, IQ approx 70, OCD, anxiety | No |