Table 1. Mutation identified.
| Name | Age | Mutation |
|---|---|---|
| Dp427 (N = 10) | ||
| MFR | 13 | Deletion of exons 8–30 |
| AAZ | 15 | Deletion of exons 3–17 |
| KN | 8 | Deletion of exon 1 |
| LR | 13 | Deletion of exons 5–7 |
| MT | 12 | Deletion of exons 1–4 |
| D | 13 | Deletion of exons 15 |
| APS | 8 | Deletion of exons 2–15 |
| KM | 10 | Deletion of exons 8–29 |
| RP | 8 | Duplication of exons 10–17 |
| Dp140 (N = 37) | ||
| NRR | 9 | Deletion of exon 45 |
| ARP | 8 | Deletion of exons 46–50 |
| PBT | 13 | Deletion of exons 7–43 |
| RWN | 9 | Deletion of exons 46–50 |
| AP | 11 | Deletion of exon 51 |
| BWC | 13 | Deletion of exons 49–50 |
| MHH | 16 | Deletion of exons 53–54 |
| NPP | 11 | Deletion of exons 46–51 |
| SY | 8 | Deletion of exons 46–50 |
| AM | 13 | Deletion of exons 48–50 |
| FS | 17 | Deletion of exons 60 |
| MDZ | 10 | Deletion of exon 52 |
| YSF | 15 | Deletion of exons 46–48 |
| GAP | 12 | Deletion of exon 51 |
| RGM | 12 | Deletion of exons 42–52 |
| NSA | 17 | Deletion of exons 17–43 |
| AR | 13 | Deletion of exons 3–44 |
| DNM | 12 | Deletion of exons 51–54 |
| MKH | 7 | Deletion of exons 53–55 |
| ZRA | 10 | Deletion of exons 45–50 |
| MA | 10 | Deletion of exon 52 |
| AN | 10 | Deletion of exons 3–44 |
| MNA | 8 | Deletion of exons 47–50 |
| E | 8 | Deletion of exons 44–50 |
| R | 4 | Deletion of exons 44–50 |
| RA | 9 | Deletion of exon 44 |
| MNH | 11 | Duplication of exons 2–44 |
| AJ | 8 | Duplication of exons 44–51 |
| MNA | 12 | Duplication of exons 44–48 |
| IAP | 13 | Duplication of exons 51–62 |
| MFH | 14 | Duplication of exon 40 |
| RD | 7 | Duplication of exons 12–44 |
| RA | 17 | Duplication of exons 2–44 |
| EM | 12 | NM 004006.2:c.6614+2T>C |
| IA | 9 | NM_004006.3:c.8086del |
| AS | 10 | NM_004006.3:c.9224+5G>A |
| HMS | 14 | NM_004006.3:c.5363C>A |
| Dp71 (N = 4) | ||
| NF | 10 | Deletion of exons 56–74 |
| RR | 12 | Duplication of exons 63 |
| GF | 9 | Duplication of exons 53–63 |
| MYS | 7 | Duplication of exons 53–63 |