Clinical findings in JAG1 mutation positive relatives of AGS probands, and the probands themselves, compared with clinical findings in two large studies of AGS probands with a clinical diagnosis of AGS
| Clinical findings | Current study: relatives (53) | Current study: probands (34) | Current study: relatives and probands (87) | Emerick et al, 1999 (92) | Lykavieris et al, 2001 (163) |
|---|---|---|---|---|---|
| PS (pulmonary stenosis)/PPS (peripheral pulmonary stenosis–stenosis at any level in the pulmonary tree | |||||
| Structural defect: intracardiac structural defects, such as tetralogy of Fallot and valvar pulmonary stenosis, excludes lone peripheral pulmonary stenosis | |||||
| Eye findings: typically posterior embryotoxon | |||||
| *Unpublished data from Lykavieris, taken from Crosnier et al (2000). | |||||
| Liver disease, 42 relatives evaluated | |||||
| Cholestatic liver disease | 31% (13/42) | 97% (33/34) | 61% (46/76) | 96% | 100% |
| Biochemical liver abnormalities only | 24%(10/42) | 3% (1/34) | 14% (11/76) | 4% | |
| No liver abnormalities | 45% (19/42) | 0% (0/34) | 25% (19/76) | ||
| Cardiac disease, 51 relatives evaluated | |||||
| PS/PPS | 41%(21/51) | 82% (28/34) | 58% (49/85) | 67% | |
| Structural defect | 31% (16/51) | 47% (16/34) | 38% (32/85) | 24% | 18%* |
| Murmur only | 29% (15/51) | 9% (3/34) | 21% (18/85) | 21% | |
| No cardiac anomalies | 25% (13/51) | 0% (0/34) | 15% (13/85) | 2% | 6%* |
| Eye findings, 31 relatives evaluated | |||||
| Eye findings | 71% (22/31) | 75% (21/28) | 73% (43/59) | 78% | 84%* |
| Vertebral anomalies, 19 relatives evaluated | |||||
| Butterfly vertebrae | 26% (5/19) | 64% (18/28) | 49% (23/47) | 51% | 79%* |
| Facial features, 46 relatives evaluated | |||||
| Facies | 91% (42/46) | 97% (31/32) | 94% (73/78) | 96% | 97%* |