{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T05:46:09Z","timestamp":1789019169569,"version":"build-2803163510"},"reference-count":19,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2007,6,13]],"date-time":"2007-06-13T00:00:00Z","timestamp":1181692800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2007,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cardio\u2010facio\u2010cutaneous syndrome (CFC) and Costello syndrome (CS) are disorders with an overlapping spectrum of congenital anomalies. Mutations in the RAS\u2010MAPK pathway have recently been reported in both of these syndromes, with <jats:italic>HRAS<\/jats:italic> mutations characteristic for CS and <jats:italic>BRAF<\/jats:italic> and <jats:italic>MEK1<\/jats:italic>\/<jats:italic>2<\/jats:italic> mutations for CFC. We report on a 3\u2010year\u2010old boy who underwent a cardiac transplant at age 8 months for hypertrophic cardiomyopathy; he was subsequently suspected to have CS. At age 35 months he presented with an intra\u2010cardiac mass that was diagnosed as metastatic hepatoblastoma. Although hepatoblastoma is not known to have an increased frequency in immunocompromised patients, questions were raised as whether the post\u2010transplant immuno\u2010suppressive therapy played a role in tumor development. The patient died shortly thereafter and his post\u2010mortem DNA analysis revealed a <jats:italic>MEK1<\/jats:italic> mutation (Y130C) previously reported in CFC. While CS is associated with increased cancer risk, only a single case of leukemia has been reported in a patient with CFC, making this the first case of a solid tumor reported in a patient with CFC. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31819","type":"journal-article","created":{"date-parts":[[2007,6,14]],"date-time":"2007-06-14T04:47:02Z","timestamp":1181796422000},"page":"1481-1488","source":"Crossref","is-referenced-by-count":38,"title":["Hepatoblastoma and heart transplantation in a patient with cardio\u2010facio\u2010cutaneous syndrome"],"prefix":"10.1002","volume":"143A","author":[{"given":"Mohamad M.","family":"Al\u2010Rahawan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah J.","family":"Chute","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katia","family":"Sol\u2010Church","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen W.","family":"Gripp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah L.","family":"Stabley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy L.","family":"McDaniel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William G.","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter E.","family":"Waldron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,6,13]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1641"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31078"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30065"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31047"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31456"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31815"},{"key":"e_1_2_6_8_1","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1007\/s00383-002-0734-2","article-title":"Hepatoblastoma associated with Beckwith\u2013Wiedemann syndrome and hemihypertrophy","volume":"19","author":"Hamada Y","year":"2003","journal-title":"Pediatr Surg Int"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.10019"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.6.469"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.040352"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10558"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergencyto.2004.04.018"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1749"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.042796"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1124642"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.11585"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.6.080604.162305"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20227"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.36.10.799"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.31819","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31819","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T01:28:32Z","timestamp":1697592512000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31819"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,6,13]]},"references-count":19,"journal-issue":{"issue":"13","published-print":{"date-parts":[[2007,7]]}},"alternative-id":["10.1002\/ajmg.a.31819"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31819","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,6,13]]}}}