Phenotype-genotype correlation
| ASD | VSD | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mutation | Site | No of genotype positive | AV block | Sinus venosus | Secundum | Unknown | Cono-ventricular | Muscular | TV abnorm-ality | MV abnorm-ality | Hetero-taxia | Reference |
| *The numbering 215-221 in the deletion mutation corresponds to 324-330 in the numbering system by Benson et al.1 | ||||||||||||
| †Ebstein’s anomaly. | ||||||||||||
| ‡One of the affected members, whose genotype was not available, had mitral valve fenestrations. | ||||||||||||
| This table was modified from the table by Benson et al.1 | ||||||||||||
| 215-221-delAGCTGGG* | 5′ coding region | 5 | 4 | 3 | 1 | 2 | 0 | 0 | 0 | 1 | 1 | This report |
| C182T, Arg25Cys | 5′ coding region | 1 | 1 | 0 | 0 | 0 | 1(TOF) | 0 | 0 | 0 | 0 | 1 |
| IVS1DS+1, G-T | Splice site | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| C554, Gln149ter | Homeodomain | 6 | 5 | 0 | 4 | 0 | 1(TOF) | 2 | 0 | 0 | 0 | 1 |
| C618T, Gln170ter | Homeodomain | 4 | 4 | 0 | 2 | 0 | 0 | 0 | 0 | 0 | 0 | 2 |
| C642T, Thr178Met | Homeodomain | 12 | 12 | 0 | 11 | 0 | 0 | 0 | 0 | 0 | 0 | 2 |
| C673A, Asn188Lys | Homeodomain | 5 | 5 | 0 | 5 | 0 | 0 | 0 | 3† | 0 | 0 | 1 |
| C674G, Arg189Gly | Homeodomain | 5 | 5 | 0 | 4 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| A681G, Tyr191Cys | Homeodomain | 1 | 1 | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| C701T, Gln198ter | 3′ coding region | 4 | 4 | 0 | 3 | 1 | 0 | 0 | 0 | 0‡ | 0 | 2, Hosoda et al (1999) |
| C886A, Tyr259ter | 3′ coding region | 7 | 7 | 0 | 6 | 0 | 2 | 1 | 0 | 0 | 0 | 1 |