{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,4]],"date-time":"2026-11-04T22:29:12Z","timestamp":1793831352364,"version":"4.6.1"},"reference-count":51,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circ: Genomic and Precision Medicine"],"published-print":{"date-parts":[[2018,4]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      Pulmonary arterial hypertension (PAH) is a rare disease characterized by pulmonary arteriole remodeling, elevated arterial pressure and resistance, and subsequent heart failure. Compared with adult-onset disease, pediatric-onset PAH is more heterogeneous and often associated with worse prognosis. Although\n                      <jats:italic>BMPR2<\/jats:italic>\n                      mutations underlie \u224870% of adult familial PAH (FPAH) cases, the genetic basis of PAH in children is less understood.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>We performed genetic analysis of 155 pediatric- and 257 adult-onset PAH patients, including both FPAH and sporadic, idiopathic PAH (IPAH). After screening for 2 common PAH risk genes, mutation-negative FPAH and all IPAH cases were evaluated by exome sequencing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>RESULTS:<\/jats:title>\n                    <jats:p>\n                      We observed similar frequencies of rare, deleterious\n                      <jats:italic>BMPR2<\/jats:italic>\n                      mutations in pediatric- and adult-onset patients: \u224855% in FPAH and 10% in IPAH patients in both age groups. However, there was significant enrichment of\n                      <jats:italic>TBX4<\/jats:italic>\n                      mutations in pediatric- compared with adult-onset patients (IPAH: 10\/130 pediatric versus 0\/178 adult-onset), and\n                      <jats:italic>TBX4<\/jats:italic>\n                      carriers had younger mean age-of-onset compared with\n                      <jats:italic>BMPR2<\/jats:italic>\n                      carriers. Mutations in other known PAH risk genes were infrequent in both age groups. Notably, among pediatric IPAH patients without mutations in known risk genes, exome sequencing revealed a 2-fold enrichment of de novo likely gene-damaging and predicted deleterious missense variants.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>\n                      Mutations in known PAH risk genes accounted for \u224870% to 80% of FPAH in both age groups, 21% of pediatric-onset IPAH, and 11% of adult-onset IPAH. Rare, predicted deleterious variants in\n                      <jats:italic>TBX4<\/jats:italic>\n                      are enriched in pediatric patients and de novo variants in novel genes may explain \u224819% of pediatric-onset IPAH cases.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1161\/circgen.117.001887","type":"journal-article","created":{"date-parts":[[2018,10,9]],"date-time":"2018-10-09T04:11:36Z","timestamp":1539058296000},"update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":142,"title":["Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults"],"prefix":"10.1161","volume":"11","author":[{"given":"Na","family":"Zhu","sequence":"first","affiliation":[{"name":"Department of Pediatrics (N.Z., C.W., L.M., U.K., E.B.R., W.K.C.), Herbert Irving Comprehensive Cancer Center (A.S., W.K.C.), and Department of Medicine (E.B.R., W.K.C.), Columbia University Medical Center, Department of Applied Physics and Applied Mathematics (H.Q.), Department of Systems Biology (N.Z., H.Q., Y.S.), and Department of Biomedical Informatics (Y.S.), Columbia University, New York, NY; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY (C.G.-J., A.K.K., J.G.R., J.D.O.,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Gonzaga-Jauregui","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (N.Z., C.W., L.M., U.K., E.B.R., W.K.C.), Herbert Irving Comprehensive Cancer Center (A.S., W.K.C.), and Department of Medicine (E.B.R., W.K.C.), Columbia University Medical Center, Department of Applied Physics and Applied Mathematics (H.Q.), Department of Systems Biology (N.Z., H.Q., Y.S.), and Department of Biomedical Informatics (Y.S.), Columbia University, New York, NY; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY (C.G.-J., A.K.K., J.G.R., J.D.O.,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carrie L.","family":"Welch","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (N.Z., C.W., L.M., U.K., E.B.R., W.K.C.), Herbert Irving Comprehensive Cancer Center (A.S., W.K.C.), and Department of Medicine (E.B.R., W.K.C.), Columbia University Medical Center, Department of Applied Physics and Applied Mathematics (H.Q.), Department of Systems Biology (N.Z., H.Q., Y.S.), and Department of Biomedical Informatics (Y.S.), Columbia University, New York, NY; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY (C.G.-J., A.K.K., J.G.R., J.D.O.,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lijiang","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (N.Z., C.W., L.M., U.K., E.B.R., W.K.C.), Herbert Irving Comprehensive Cancer Center (A.S., W.K.C.), and Department of Medicine (E.B.R., W.K.C.), Columbia University Medical Center, Department of Applied Physics and Applied Mathematics (H.Q.), Department of Systems Biology (N.Z., H.Q., Y.S.), and Department of Biomedical Informatics (Y.S.), Columbia University, New York, NY; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY (C.G.-J., A.K.K., J.G.R., J.D.O.,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongjian","family":"Qi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (N.Z., C.W., L.M., U.K., E.B.R., W.K.C.), Herbert Irving Comprehensive Cancer Center (A.S., W.K.C.), and Department of Medicine (E.B.R., W.K.C.), Columbia University Medical Center, Department of Applied Physics and Applied Mathematics (H.Q.), Department of Systems Biology (N.Z., H.Q., Y.S.), and Department of Biomedical Informatics (Y.S.), Columbia University, New York, NY; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY (C.G.-J., A.K.K., J.G.R., J.D.O.,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandra K.","family":"King","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (N.Z., C.W., L.M., U.K., E.B.R., W.K.C.), Herbert Irving Comprehensive Cancer Center (A.S., W.K.C.), and Department of Medicine (E.B.R., W.K.C.), Columbia University Medical Center, Department of Applied Physics and Applied Mathematics (H.Q.), Department of Systems Biology (N.Z., H.Q., Y.S.), and Department of Biomedical Informatics (Y.S.), Columbia University, New York, NY; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY (C.G.-J., A.K.K., J.G.R., J.D.O.,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Usha","family":"Krishnan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (N.Z., C.W., L.M., U.K., E.B.R., W.K.C.), Herbert Irving Comprehensive Cancer Center (A.S., W.K.C.), and Department of Medicine (E.B.R., W.K.C.), Columbia University Medical Center, Department of Applied Physics and Applied Mathematics (H.Q.), Department of Systems Biology (N.Z., H.Q., Y.S.), and Department of Biomedical Informatics (Y.S.), Columbia University, New York, NY; 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Dunbar","family":"Ivy","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (N.Z., C.W., L.M., U.K., E.B.R., W.K.C.), Herbert Irving Comprehensive Cancer Center (A.S., W.K.C.), and Department of Medicine (E.B.R., W.K.C.), Columbia University Medical Center, Department of Applied Physics and Applied Mathematics (H.Q.), Department of Systems Biology (N.Z., H.Q., Y.S.), and Department of Biomedical Informatics (Y.S.), Columbia University, New York, NY; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY (C.G.-J., A.K.K., J.G.R., J.D.O.,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric D.","family":"Austin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (N.Z., C.W., L.M., U.K., E.B.R., W.K.C.), Herbert Irving Comprehensive Cancer Center (A.S., W.K.C.), and Department of Medicine (E.B.R., W.K.C.), Columbia University Medical Center, Department of Applied Physics and Applied Mathematics (H.Q.), Department 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