{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T06:04:02Z","timestamp":1767852242180,"version":"3.49.0"},"reference-count":31,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2023,8,9]],"date-time":"2023-08-09T00:00:00Z","timestamp":1691539200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Left main coronary artery ostial atresia (LMCAOA) is an extremely rare condition. Here, we report the case of a 14\u2010year\u2010old boy with Noonan syndrome\u2010like disorder in whom LMCAOA was detected following cardiopulmonary arrest. The patient had been diagnosed with Noonan syndrome\u2010like disorder with a pathogenic splice site variant of <jats:italic>CBL<\/jats:italic> c.1228\u20102 A\u2009&gt;\u2009G. He suddenly collapsed when he was running. After administering two electric shocks using an automated external defibrillator, the patient's heartbeat resumed. Cardiac catheterization confirmed the diagnosis of LMCAOA. Left main coronary artery angioplasty was performed. The patient was discharged without neurological sequelae. Brain magnetic resonance imaging revealed asymptomatic Moyamoya disease. In addition, <jats:italic>RNF213<\/jats:italic> c.14429 G\u2009&gt;\u2009A p.R4810K was identified. There are no reports on congenital coronary malformations of compound variations of <jats:italic>RNF213<\/jats:italic> and <jats:italic>CBL<\/jats:italic>. In contrast, the <jats:italic>RNF213<\/jats:italic> p.R4810K polymorphism has been established as a risk factor for angina pectoris and myocardial infarction in adults, and several congenital coronary malformations due to genetic abnormalities within the RAS\/MAPK signaling pathway have been reported. This report aims to highlight the risk of sudden death in patients with RASopathy and <jats:italic>RNF213<\/jats:italic> p.R4810K polymorphism and emphasize the significance of actively searching for coronary artery morphological abnormalities in these patients.<\/jats:p>","DOI":"10.1002\/ajmg.a.63370","type":"journal-article","created":{"date-parts":[[2023,8,9]],"date-time":"2023-08-09T07:00:45Z","timestamp":1691564445000},"page":"2837-2842","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A Noonan\u2010like pediatric patient with a de novo <i>CBL<\/i> pathogenic variant and an <i>RNF213<\/i> polymorphism p.R4810K presenting with cardiopulmonary arrest due to left main coronary artery ostial atresia"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1277-6119","authenticated-orcid":false,"given":"Ayako","family":"Chida\u2010Nagai","sequence":"first","affiliation":[{"name":"Department of Pediatrics Hokkaido University Hospital  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidefumi","family":"Tonoki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hokkaido University Hospital  Sapporo Japan"},{"name":"Medical Genetics Center, Tenshi Hospital  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naomasa","family":"Makita","sequence":"additional","affiliation":[{"name":"Omics Research Center, National Cerebral and Cardiovascular Center  Suita Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Ishiyama","sequence":"additional","affiliation":[{"name":"Department of Neurology National Cerebral and Cardiovascular Center  Suita Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masafumi","family":"Ihara","sequence":"additional","affiliation":[{"name":"Department of Neurology National Cerebral and Cardiovascular Center  Suita Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuji","family":"Maruo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hokkaido University Hospital  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takao","family":"Tsujioka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hokkaido University Hospital  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daisuke","family":"Sasaki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hokkaido University Hospital  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gaku","family":"Izumi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hokkaido University Hospital  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirokuni","family":"Yamazawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hokkaido University Hospital  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nobuyasu","family":"Kato","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Surgery Hokkaido University  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masaki","family":"Ito","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Hokkaido University Graduate School of Medicine  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miki","family":"Fujimura","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Hokkaido University Graduate School of Medicine  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Osamu","family":"Sasaki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hokkaido University Hospital  Sapporo Japan"},{"name":"Department of Pediatrics Tenshi Hospital  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsuhito","family":"Takeda","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hokkaido University Hospital  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,8,9]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/chd.12842"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopha.2020.110856"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-104432"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2016.12"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.25271"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(22)00165-X"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2010.132"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0022542"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2009-01-198416"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.06.015"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10923"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0175649"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms9018"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.641"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00428-005-0017-0"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.5551\/jat.63379"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-021-03566-4"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00277-011-1326-9"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2010.08393.x"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.076836"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2019.01.036"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.03.009"},{"key":"e_1_2_10_24_1","volume-title":"GeneReviews","author":"Roberts A. E.","year":"1993"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1161\/STROKEAHA.120.032691"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201712120"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1097\/HJH.0000000000002964"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/jocs.12044"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1017\/S104795112200083X"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2021.112730"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2021-322858"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1177\/0271678X221110679"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63370","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T11:05:38Z","timestamp":1699873538000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63370"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,9]]},"references-count":31,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2023,12]]}},"alternative-id":["10.1002\/ajmg.a.63370"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63370","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,8,9]]},"assertion":[{"value":"2023-02-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-07-29","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-09","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}