Table 1.
clinical feature of GD2 ashkenzi Jews patients
| Case No. |
Source | Sex | Age at Diagnosis [m] |
Mutation | Disease in family |
Carriers in family |
Age at Death [m] |
|---|---|---|---|---|---|---|---|
| 1 | This study | F | 6.5 | L444P / IVS2(+1) | subsequent 1 prenatal Dg 1 brother |
1 subsequent sister |
12 |
| 2 | This study | F | 1st week | L444P / IVS2(+1) | 1 sister 1 prenatal Dg |
1 sister | 9 |
| 3 | This study | F | Prenatal | ND | 2 sisters | Pregnancy terminated |
|
| 4 | This study | M | 7 | L444P/L444P+A456P | none | not known | 10 |
| 5 | Schairer at al [7] | M | 1 | ND | none (?) | not known (?) | 4 |
| 6 | Banker et al [8] | M | 3 | ND | 1 brother | NA | 7 |
| 7 | Banker et al [8] | M | Post mortem |
ND | 1 brother | NA | 10 |
| 8 | Adachi et al [9] | M | 6 | ND | 1 brother | NA | 10 |
| 9 | Adachi et al [9] | M | NA | ND | 1 brother | NA | 10 |
| 10 | Reissner et al [6] Orvisky at al [14] |
NA | Prenatal | Rec A/IVS 10 + 2T>G | 1 sibling | Both parents | Teminated pregnancy week 22 |
| 11 | Reissner et al [6] Orvisky at al [14] |
NA | Prenatal | ? | 1 sibling | Both parents | Teminated pregnancy week 11 |