Table 4.
List of potential new founder mutations
| Mutation | Type | N cases | N chromosomes (Het/Hom) | Family |
|---|---|---|---|---|
| c.3472C>T;p.Arg1158* | CFTR2, Causative | 5 | 7 (3/2) | One Arab family, One Bedouin family |
| c.761delA;p.Lys254Argfs*7 | Novel | 4 | 8 (0/4) | Two unrelated Bedouin families |
| c.3299A>C;p.Gln1100Pro | Previously reported CFTR | 4 | 4 (4/0) | Three unrelated Arab families |
| c.3276C>A;p.Tyr1092* | CFTR2, Causative | 3 | 6 (0/3) | Three unrelated Arab families |
| c.4251delA;p.Glu1418Argfs*14 | CFTR2, Causative | 3 | 5 (1/2) | Two unrelated Arab families |
| c.3041A>G;p.Tyr1014Cys | Previously reported CAVD | 3 | 3 (3/0) | Three unrelated Jewish families |
| c.313delA;p.Ile105Serfs*2 | CFTR2, Causative | 2 | 3 (1/1) | One Arab family, One Arab/Jewish family |
| c.416A>T;p.His139Leu | Previously reported CFTR | 2 | 3 (1/1) | Ethiopian Jews, half siblings |
| c.2988+1G>A | CFTR2, Causative | 2 | 2 (2/0) | Two unrelated Jewish families |
| c.3764C>A;p.Ser1255* | CFTR2, Causative | 2 | 2 (2/0) | Two unrelated Arab families |
| c.1000C>T;p.Arg334Trp | CFTR2, Causative | 1 | 1 (1/0) | One family of mixed Jewish ancestrya |
a
This mutation was identified in five additional patients listed in the Israeli CF data registry.