Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults [Original Articles]

Conclusions:
Mutations in known PAH risk genes accounted for 70% to 80% of FPAH in both age groups, 21% of pediatric-onset IPAH, and 11% of adult-onset IPAH. Rare, predicted deleterious variants in TBX4 are enriched in pediatric patients and de novo variants in novel genes may explain 19% of pediatric-onset IPAH cases.

Source: Circulation: Cardiovascular Genetics - April 9, 2018 Category: Cardiology Authors: Zhu, N., Gonzaga-Jauregui, C., Welch, C. L., Ma, L., Qi, H., King, A. K., Krishnan, U., Rosenzweig, E. B., Ivy, D. D., Austin, E. D., Hamid, R., Nichols, W. C., Pauciulo, M. W., Lutz, K. A., Sawle, A., Reid, J. G., Overton, J. D., Baras, A., Dewey, F., Sh Tags: Pediatrics, Genetic, Association Studies, Pulmonary Hypertension Original Articles Source Type: research