{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T17:52:07Z","timestamp":1789581127344,"version":"build-2803163510"},"reference-count":32,"publisher":"Oxford University Press (OUP)","issue":"17","license":[{"start":{"date-parts":[[2019,5,25]],"date-time":"2019-05-25T00:00:00Z","timestamp":1558742400000},"content-version":"vor","delay-in-days":24,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["T32 GM071339"],"award-info":[{"award-number":["T32 GM071339"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R35 GM118090"],"award-info":[{"award-number":["R35 GM118090"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01 GM060293"],"award-info":[{"award-number":["R01 GM060293"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Wellcome Trust Sanger Institute","award":["WT098051"],"award-info":[{"award-number":["WT098051"]}]},{"name":"Health Innovation Challenge Fund","award":["HICF-1009-003"],"award-info":[{"award-number":["HICF-1009-003"]}]},{"name":"New York State Institute for Basic Research in Developmental Disabilities"},{"name":"Stanley Institute for Cognitive Genomics"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>N-alpha-acetylation is one of the most common co-translational protein modifications in humans and is essential for normal cell function. NAA10 encodes for the enzyme NAA10, which is the catalytic subunit in the N-terminal acetyltransferase A (NatA) complex. The auxiliary and regulatory subunits of the NatA complex are NAA15 and Huntington-interacting protein (HYPK), respectively. Through a genotype-first approach with exome sequencing, we identified and phenotypically characterized 30 individuals from 30 unrelated families with 17 different de novo or inherited, dominantly acting missense variants in NAA10 or NAA15. Clinical features of affected individuals include variable levels of intellectual disability, delayed speech and motor milestones and autism spectrum disorder. Additionally, some subjects present with mild craniofacial dysmorphology, congenital cardiac anomalies and seizures. One of the individuals is an 11-year-old boy with a frameshift variant in exon 7 of NAA10, who presents most notably with microphthalmia, which confirms a prior finding with a single family with Lenz microphthalmia syndrome. Biochemical analyses of variants as part of the human NatA complex, as well as enzymatic analyses with and without the HYPK regulatory subunit, help to explain some of the phenotypic differences seen among the different variants.<\/jats:p>","DOI":"10.1093\/hmg\/ddz111","type":"journal-article","created":{"date-parts":[[2019,5,21]],"date-time":"2019-05-21T07:13:05Z","timestamp":1558422785000},"page":"2900-2919","source":"Crossref","is-referenced-by-count":69,"title":["Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15"],"prefix":"10.1093","volume":"28","author":[{"given":"Hanyin","family":"Cheng","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leah","family":"Gottlieb","sequence":"additional","affiliation":[{"name":"Department of Chemistry, University of Pennsylvania, Philadelphia, PA 19104, USA"},{"name":"Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine","family":"Marchi","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Kleyner","sequence":"additional","affiliation":[{"name":"Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, One Bungtown Road, Cold Spring Harbor, NY 11724, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Puja","family":"Bhardwaj","sequence":"additional","affiliation":[{"name":"Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, One Bungtown Road, Cold Spring Harbor, NY 11724, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan F","family":"Rope","sequence":"additional","affiliation":[{"name":"Kaiser Permanente Center for Health Research, Portland, OR 97227, USA"},{"name":"Genome Medical, South San Francisco, CA 94080, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Rosenheck","sequence":"additional","affiliation":[{"name":"Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, One Bungtown Road, Cold Spring Harbor, NY 11724, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00e9bastien","family":"Moutton","sequence":"additional","affiliation":[{"name":"Reference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, Dijon, France"},{"name":"G\u00e9n\u00e9tique des Anomalies du d\u00e9veloppement, INSERM U1231, Lipides Nutrition et Cancer, UMR1231, Universit\u00e9 de Bourgogne, F-21000, Dijon 21070, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christophe","family":"Philippe","sequence":"additional","affiliation":[{"name":"G\u00e9n\u00e9tique des Anomalies du d\u00e9veloppement, INSERM U1231, Lipides Nutrition et Cancer, UMR1231, Universit\u00e9 de Bourgogne, F-21000, Dijon 21070, France"},{"name":"Laboratoire de G\u00e9n\u00e9tique, Innovation Diagnostic G\u00e9nomique des Maladies Rares UF6254, Plate-forme de Biologie Hospitalo-Universitaire, Centre Hospitalier Universitaire, Dijon 21070, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wafaa","family":"Eyaid","sequence":"additional","affiliation":[{"name":"King Abdulaziz Medical City, King Saud Bin AbdulAziz University\u2014Health Science, King Abdullah International Medical Research Center, Riyadh 11426, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fowzan S","family":"Alkuraya","sequence":"additional","affiliation":[{"name":"Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia"},{"name":"Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janet","family":"Toribio","sequence":"additional","affiliation":[{"name":"Division of Cardiology, CEDIMAT, Santo Domingo 51000, Dominican Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafael","family":"Mena","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit, Centro de Obstetricia y Ginecologia, Santo Domingo, Dominican Republic"},{"name":"Division Of Neonatology, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, OH 45229, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos E","family":"Prada","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, OH 45229, USA"},{"name":"Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holly","family":"Stessman","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, Creighton University Medical School, Omaha, NE 68178, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raphael","family":"Bernier","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, University of Washington, Seattle, WA 98195, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marieke","family":"Wermuth","sequence":"additional","affiliation":[{"name":"Klinik f\u00fcr Kinder-und Jugendmedizin, Neurop\u00e4diatrie, Klinikum Links der Weser, Senator-We\u03b2ling-Str.1. in 28211 Bremen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgit","family":"Kauffmann","sequence":"additional","affiliation":[{"name":"Klinik f\u00fcr Kinder-und Jugendmedizin, Neurop\u00e4diatrie, Klinikum Links der Weser, Senator-We\u03b2ling-Str.1. in 28211 Bremen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bettina","family":"Blaumeiser","sequence":"additional","affiliation":[{"name":"University and University Hospital of Antwerp, Antwerp, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R Frank","family":"Kooy","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Antwerp, Antwerp 2000, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Baralle","sequence":"additional","affiliation":[{"name":"Human Development and Health, Faculty of Medicine, University of Southampton, Southampton SO16 5YA, UK"},{"name":"Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grazia M S","family":"Mancini","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3015 GD, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon J","family":"Conway","sequence":"additional","affiliation":[{"name":"HB Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN 46202, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fan","family":"Xia","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA"},{"name":"Baylor Genetics, Houston, TX 77021, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhao","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA"},{"name":"Baylor Genetics, Houston, TX 77021, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linyan","family":"Meng","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA"},{"name":"Baylor Genetics, Houston, TX 77021, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ljubisa","family":"Mihajlovic","sequence":"additional","affiliation":[{"name":"GeneInfo, Human Genetics, 18000 Ni\u0161, Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronen","family":"Marmorstein","sequence":"additional","affiliation":[{"name":"Department of Chemistry, University of Pennsylvania, Philadelphia, PA 19104, USA"},{"name":"Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA"},{"name":"Department of Biochemistry and 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Genet."},{"key":"2019091012120430400_ref5","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1002\/humu.23001","article-title":"Expanding the phenotype associated with NAA10-related N-terminal acetylation deficiency","volume":"37","author":"Saunier","year":"2016","journal-title":"Hum. Mutat."},{"key":"2019091012120430400_ref6","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1038\/ejhg.2014.150","article-title":"De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females","volume":"23","author":"Popp","year":"2015","journal-title":"Eur. J. Hum. 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Rep."},{"key":"2019091012120430400_ref9","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/j.pediatrneurol.2017.07.010","article-title":"Clinical manifestations associated with the N-terminal-acetyltransferase NAA10 gene mutation in a girl: Ogden syndrome","volume":"76","author":"Sidhu","year":"2017","journal-title":"Pediatr. Neurol."},{"key":"2019091012120430400_ref10","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1016\/j.seizure.2018.06.008","article-title":"A case of de novo NAA10 mutation presenting with eyelid myoclonias (AKA Jeavons syndrome)","volume":"60","author":"Valentine","year":"2018","journal-title":"Seizure"},{"key":"2019091012120430400_ref11","doi-asserted-by":"crossref","first-page":"1294","DOI":"10.1038\/s41431-018-0136-0","article-title":"A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy","volume":"26","author":"St\u00f8ve","year":"2018","journal-title":"Eur. J. Hum. 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