Table 1

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 evaluation17/53 (32%)
Total relatives who met clinical criteria28/53 (53%)
Relatives with 1 or 2 features of AGS23/53 (43%)
Relatives with no features of AGS2/53 (4%)
Total relatives who did not meet criteria25/53 (47%)