{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T17:52:05Z","timestamp":1789581125135,"version":"build-2803163510"},"reference-count":34,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,10,26]],"date-time":"2020-10-26T00:00:00Z","timestamp":1603670400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["T32"],"award-info":[{"award-number":["T32"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["HL1007915"],"award-info":[{"award-number":["HL1007915"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["K08NS105865"],"award-info":[{"award-number":["K08NS105865"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The NatA N\u2010acetyltransferase complex is important for cotranslational protein modification and regulation of multiple cellular processes. The NatA complex includes the core components of <jats:italic>NAA10<\/jats:italic>, the catalytic subunit, and <jats:italic>NAA15<\/jats:italic>, the auxiliary component. Both <jats:italic>NAA10<\/jats:italic> and <jats:italic>NAA15<\/jats:italic> have been associated with neurodevelopmental disorders with overlapping clinical features, including variable intellectual disability, dysmorphic facial features, and, less commonly, congenital anomalies such as cleft lip or palate. Cardiac arrhythmias, including long QT syndrome, ventricular tachycardia, and ventricular fibrillation were among the first reported cardiac manifestations in patients with NAA10\u2010related syndrome. Recently, three individuals with NAA10\u2010related syndrome have been reported to also have hypertrophic cardiomyopathy (HCM). The general and cardiac phenotypes of NAA15\u2010related syndrome are not as well described as NAA10\u2010related syndrome. Congenital heart disease, including ventricular septal defects, and arrhythmias, such as ectopic atrial tachycardia, have been reported in a small proportion of patients with NAA15\u2010related syndrome. Given the relationship between <jats:italic>NAA10<\/jats:italic> and <jats:italic>NAA15<\/jats:italic>, we propose that HCM is also likely to occur in NAA15\u2010related disorder. We present two patients with pediatric HCM found to have NAA15\u2010related disorder via exome sequencing, providing the first evidence that variants in <jats:italic>NAA15<\/jats:italic> can cause HCM.<\/jats:p>","DOI":"10.1002\/ajmg.a.61928","type":"journal-article","created":{"date-parts":[[2020,10,26]],"date-time":"2020-10-26T08:45:49Z","timestamp":1603701949000},"page":"228-233","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Variants in <scp><i>NAA15<\/i><\/scp> cause pediatric hypertrophic cardiomyopathy"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4735-5223","authenticated-orcid":false,"given":"Alyssa","family":"Ritter","sequence":"first","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Divison of Cardiology, Department of Pediatrics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justin H.","family":"Berger","sequence":"additional","affiliation":[{"name":"Divison of Cardiology, Department of Pediatrics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Deardorff","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine and Pediatrics Children's Hospital Los Angeles, Keck School of Medicine of the University of Southern California  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7922-7480","authenticated-orcid":false,"given":"Kosuke","family":"Izumi","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department of Pediatrics Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly Y.","family":"Lin","sequence":"additional","affiliation":[{"name":"Divison of Cardiology, Department of Pediatrics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Livija","family":"Medne","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca C.","family":"Ahrens\u2010Nicklas","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department of Pediatrics Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,10,26]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20041071"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1209469"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.01199-09"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep16022"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.03.004"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddz173"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btv195"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.str.2019.04.014"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-020-14584-7"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2015.04.085"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-101660"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.23.20.7403-7414.2003"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.153"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2018-105836"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"issue":"7","key":"e_1_2_10_17_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s12276-018-0105-2","article-title":"N\u2010\u03b1\u2010acetyltransferase 10 (NAA10) in development: The role of NAA10","volume":"50","author":"Lee M.\u2010N.","year":"2018","journal-title":"Experimental & Molecular Medicine"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms8640"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/nsmb.2636"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.str.2019.06.002"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1989.tb03615.x"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.5867"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkg509"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.150"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-019-0803-1"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.017"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23001"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2017.07.010"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3792"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0136-0"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1074\/mcp.M110.004580"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature12141"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32574"}],"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.61928","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61928","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61928","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T07:04:07Z","timestamp":1693811047000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61928"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,26]]},"references-count":34,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,1]]}},"alternative-id":["10.1002\/ajmg.a.61928"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61928","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10,26]]},"assertion":[{"value":"2020-07-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-04","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-26","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}