Table III.
Phenotype Comparison in JAG1 + Cohort versus Vietnamese JAG1+ Cohort
| Phenotype Presentation in JAG1 (+) Cohort and Vietnamese JAG1(+) Cohort | |||||||
|---|---|---|---|---|---|---|---|
| Type of Proband | Total # of Probands |
Phenotype | |||||
| Liver | Cardiac | Eye | Skeletal | Facies | Renal | ||
| Composite of Prior Studiesa | 268 | 95% | 94% | 80% | 61% | 92% | 44% |
| Cohort partially reported in Warthen et al. [2006] | 326 | 97.3% | 97.9% | 68.3% | 57.9% | 96% | 30.5% |
| JAG1 Vietnamese Probands (Excludes Unknowns) | 18 | 100% (18/18) | 94.4% (17/18) | 100% (2/2) | 94.1% (16/17) | NDb | 27.3% (3/11) |
a
Data from Kamath BM, Spinner NB, “Piccoli DA. Alagille Syndrome. In: Suchy FJ, Sokol RJ, Balistreri WF, eds. Liver disease in children, 3rd ed. Cambridge: Cambridge University Press, 2007:326–345.
b
Facial phenotype frequency was not assessed