TBX22 mutations in familial CP patients selected for analysis by X linkage and/or presence of ankyloglossia
| Family | Selection* | Mutation | Exon | Effect | Reference |
|---|---|---|---|---|---|
| *Selection criteria: cleft palate with (X), X linkage; (A), presence of ankyloglossia | |||||
| London | A | 166G→T | 1 | E56X stop codon | 18 |
| Mennonite | X+A | 352G→T | 2 | G118C missense | 18 |
| Family 2 (BR3) | A | 581–582insCAG | 4 | S195–196ins | 19+text |
| BR1 | X+A | IVS4+1G→A | 4 | Splice site | 18 |
| Family W | A | IVS4+1G→A | 4 | Splice site | See text |
| Family 1 | A | 641T→C | 5 | L214P missense | 19 |
| BR2 | X+A | 664delC | 5 | Frame shift | 18 |
| Native American | X+A | 779C→T | 5 | T260M missense | 18 |
| Family K | A | 790A→T | 5 | N264Y | See text |
| Icelandic | X+A | IVS6+1G→C | 6 | Splice site | 18 |