Patient mutations detected in this study
| Family | Ethnic group | Exon(s) | Allele 1 | Allele 2 | Consequences | Domain |
|---|---|---|---|---|---|---|
| *Previously published.29 | ||||||
| †Previously published.31 | ||||||
| PTC + 8: premature termination codon 8 amino acids downstream of mutation. | ||||||
| DSL: delta-serrate-lag2 | ||||||
| EGF: epidermal growth factor-like domain | ||||||
| 1* | Palestinian/Israeli Arab | 5/5 | 603ins5 | 603ins5 | PTC + 40/PTC + 40 | DSL/DSL |
| 2* | Pakistani (Kashmir) | 7/7 | 945delAT | 945delAT | PTC + 18/PTC + 18 | EGF 3/EGF 3 |
| 3* | Pakistani (Rawalpindi) | 8/8 | 1154G>A | 1154G>A | G385D/G385D | EGF 4/EGF 4 |
| 4 | Pakistani (Kashmir) | 7/7 | 945delAT | 945delAT | PTC + 18/PTC + 18 | EGF 3/EGF 3 |
| 5 | Pakistani | 8/8 | 1365del17 | 1365del17 | PTC + 4/PTC + 4 | EGF 6/EGF 6 |
| 6 | North American (mixed European) | 5/8 | 621C>A | 1418delC | C207X/PTC + 74 | DSL/C-terminus |
| 7 | Southern European | 5/8 | 603ins5 | 1256ins18 | PTC + 40/in frame insertion | DSL/EGF 5 |
| 8 | Southern African (mixed European) | 4/7 | 395delG | 948delTG | PTC + 108/PTC + 16 | N-terminus/EGF 3 |
| 9 | Northern European | 5/5 | 602delG | 602delG | PTC + 39/PTC + 39 | DSL/DSL |
| 10 | Turkish | 7/7 | 1086 C>A | 1086 C>A | C362X/C362X | EGF 4/EGF 4 |
| 11 | Turkish | 5/5 | 614ins13 | 614ins13 | PTC + 11/PTC + 11 | DSL/DSL |
| 12 | Lebanese Arab | 5/5 | 614ins13 | 614ins13 | PTC + 11/PTC + 11 | DSL/DSL |
| 13 | Pakistani | 6/6 | 868del11 | 868del11 | Donor splice site deleted | EGF 2/EGF2 |
| 14† | Palestinian Arab | 7/7 | 926 G>A | 926 G>A | C309Y/C309Y | EGF 2/EGF2 |