{"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":1789581127540,"version":"build-2803163510"},"reference-count":10,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2025,4,30]],"date-time":"2025-04-30T00:00:00Z","timestamp":1745971200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","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":[[2025,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>We report a family with two affected brothers presenting hypertrophic cardiomyopathy, prolonged QT interval, and intellectual disability who, after a dozen years of inconclusive genetic testing, were found to share a previously undescribed variant c.549delA (p.Gly184Alafs*67) in the X\u2010linked <jats:italic>NAA10<\/jats:italic> gene. Their mother was heterozygous for the variant and had a long history of unexplained cardiac arrhythmia. NAA10 (<jats:italic>N<\/jats:italic>\u2010alpha\u2010acetyltransferase 10) is a component of the N\u2010terminal acetyltransferase A complex (also called the NatA complex) necessary for <jats:italic>N<\/jats:italic>\u2010alpha\u2010acetylation, among the most common post\u2010translational protein modifications in eukaryotic cells. Deleterious variants in the X\u2010linked <jats:italic>NAA10<\/jats:italic> gene cause a wide spectrum of clinical features, recently merged under the umbrella term of NAA10\u2010related disease, mainly featuring intellectual disability, seizures, visual and cardiac abnormalities. Congenital heart defects and cardiac dysfunction\/arrhythmias emerged as a very common manifestations of the disease both in males and females described in the medical literature. While atrial and ventricular septal defects dominated at pediatric age in both sexes, hypertrophic cardiomyopathy, and prolonged QT were observed in adult males and females, respectively. Our observations may help in the early recognition of <jats:italic>NAA10<\/jats:italic>\u2010related disease based on previously underrecognized cardiac features, especially in females with unexplained arrhythmias and\/or prolonged QT, and guide personalized management of this neglected condition.<\/jats:p>","DOI":"10.1002\/ajmg.a.64096","type":"journal-article","created":{"date-parts":[[2025,4,30]],"date-time":"2025-04-30T19:57:36Z","timestamp":1746043056000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Cardiological Manifestations in Males and Females Affected by <scp><i>NAA10<\/i><\/scp>\u2010Related Disease"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0396-7981","authenticated-orcid":false,"given":"Irene","family":"Bottillo","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Experimental Medicine San Camillo\u2010Forlanini Hospital, Sapienza University  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"De Luca","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Life, Health and Environmental Sciences University of L'Aquila  L'Aquila Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Cordella","sequence":"additional","affiliation":[{"name":"Genomix4Life Srl  Baronissi Italy"},{"name":"Genome Research Center for Health\u2010CRGS  Baronissi Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Passeri","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Diabetes, CTO Andrea Alesini Hospital, Department of Biomedicine and Prevention University Tor Vergata  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6402-2610","authenticated-orcid":false,"given":"Marco","family":"Salvatore","sequence":"additional","affiliation":[{"name":"Undiagnosed Rare Diseases Interdepartmental Unit, National Center for Rare Diseases Istituto Superiore di Sanit\u00e0  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Fortugno","sequence":"additional","affiliation":[{"name":"Department of Human Sciences for the Promotion of Quality of Life San Raffaele University  Rome Italy"},{"name":"IRCCS San Raffaele Roma  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Leonardi","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Life, Health and Environmental Sciences University of L'Aquila  L'Aquila Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Dofcaci","sequence":"additional","affiliation":[{"name":"Cardiology Unit Valmontone Hospital  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi","family":"Sciarra","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Department of Life, Health and Environmental Sciences University of L'Aquila  L'Aquila Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvio","family":"Romano","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Department of Life, Health and Environmental Sciences University of L'Aquila  L'Aquila Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Beatrice","family":"Musumeci","sequence":"additional","affiliation":[{"name":"Division of Cardiology Department of Clinical and Molecular Medicine, Sapienza University  Rome 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