Summary of clinical findings in mutation-positive relatives of AGS probands
| JAG1 mutation positive individuals (probands = 34, relatives = 53) | Number |
|---|---|
| *These individuals met classic criteria, namely liver disease in association with three of five clinical criteria. | |
| Relatives with clear clinical diagnosis of AGS* | 11/53 (21%) |
| Relatives who met criteria on targeted evaluation | 17/53 (32%) |
| Total relatives who met clinical criteria | 28/53 (53%) |
| Relatives with 1 or 2 features of AGS | 23/53 (43%) |
| Relatives with no features of AGS | 2/53 (4%) |
| Total relatives who did not meet criteria | 25/53 (47%) |