Table 5.
ASPM gene mutations in MCPH families from Pakistan
| Mutation | Language Group | State of Mutation | Present in No. of families from Pakistan | Reference |
|---|---|---|---|---|
| 349C-T | Northern Pakistani | homozygous | One | [22] |
| 719delCT | Northern Pakistani | homozygous | One | [74] |
| 1258delTCTCAAT | Northern Pakistani | homozygous | Two | [22,74] |
| 9190C-T | Northern Pakistani | homozygous | One | [22] |
| 2936+5G-T (intronic) | Northern Pakistani | homozygous | One | [74] |
| 1990C-T | Northern Pakistani | homozygous | One | [74] |
| 8508delGA | Sindi, Northern Pakistani | homozygous | Four | [16,17,19,74] |
| 3082G-A | Northern Pakistani | homozygous | One | [74] |
| 4581delA | Northern Pakistani | homozygous | One | [74] |
| 4795C-T | Northern Pakistani | homozygous | One | [74] |
| 7895C-T | Northern Pakistani | homozygous | One | [74] |
| 9159delA | Northern Pakistani | homozygous | Three | [22,74,105] |
| 9557C-G | Hindko | homozygous | Three | [11,74] |
| 9984+1G-T (intronic) | Northern Pakistani | homozygous | One | [74] |
| 3663delG | Northern Pakistani | homozygous | Two | [74] |
| 1002delA | Pakistani | homozygous | One | [16] |
| 2938C-T | Pakistani | homozygous | One | [16] |
| 3055C-T | Pakistani | homozygous | One | [16] |
| 7894C-T | Pakistani/heterozygous | Homozygous | Two | [16] |
| 3477delCGCTA | Pakistani | Homozygous | One | [16] |
| 6732delA | Pakistani | Homozygous | One | [16] |
| 8668C-T | Pakistani | Homozygous | One | [16] |
| 3978G-A | Pashto.... | Heterozygous/homozygous | Eighteen | [11,16,17,105] |
| 9319C-T | Pakistani | heterozygous | One | [16] |
| 9492T-G | Pakistani | homozygous | Three | [16,105] |
| 9595A-T | Pakistani | homozygous | One | [16] |
| 9677insG | Pakistani | homozygous | One | [16] |
| 9697C-T | Pakistani | homozygous | One | [16] |
| 1260delTCAAGTC | Saraiki | homozygous | Two | [11,105] |
| 3188T-G | Pakistani | homozygous | One | [19] |
| 4855delTA | Pakistani | homozygous | One | [19] |
| 5136C-A | Sindhi | homozygous | One | [17] |
| 5149delA | Saraiki | homozygous | One | [17] |
| 6335delAT | Pakistani | homozygous | One | [24] |
| 7761T-G | Pakistani | homozygous | Two | [19,22] |
| 7782delGA | Pakistani | homozygous | One | [19] |
| 8378delT | Pakistani | homozygous | More than one | [19] |
| 9118insCATT | Punjabi | homozygous | One | [11] |
| 9238A-T | Punjabi | homozygous | Two | [11,19] |
| 9681delA | Pakistani | homozygous | One | [19] |
| 9730C-T | Kashmiri | homozygous | One | [17] |
| 9745delCT | Pakistani | homozygous | One | [19] |
| 9789T-A | Pakistani | homozygous | One | [19] |
| 10059C-A | Saraiki | homozygous | One | [17] |
| 9539A-C | Sindi | homozygous | One | [11] |
| 2101C-T | Pakistani | homozygous | One | [105] |
| 6686delGAAA | Pakistani | homozygous | Two | [8,105] |
| 77delG | Pakistani | homozygous | Two | [8,105] |