{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,7]],"date-time":"2026-11-07T02:52:52Z","timestamp":1794019972398,"version":"4.8.0"},"reference-count":19,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,11,25]],"date-time":"2022-11-25T00:00:00Z","timestamp":1669334400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The non\u2010POU domain\u2010containing octamer\u2010binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the <jats:italic>NONO<\/jats:italic> gene were confirmed to cause a rare X\u2010linked syndromic disorder. Through our in\u2010house diagnostics and subsequent matchmaking, we identified six unrelated male individuals with pathogenic or likely pathogenic <jats:italic>NONO<\/jats:italic> variants. For a detailed comparison, we reviewed all published characterizations of the <jats:italic>NONO<\/jats:italic>\u2010associated disorder. The combined cohort consists of 16 live\u2010born males showing developmental delay, corpus callosum anomalies, non\u2010compaction cardiomyopathy and relative macrocephaly as leading symptoms. Seven prenatal literature cases were characterized by cardiac malformations. In this study, we extend the phenotypic spectrum through two more cases with epilepsy as well as two more cases with hematologic anomalies. By RNA expression analysis and structural modeling of a new in\u2010frame splice deletion, we reinforce loss\u2010of\u2010function as the pathomechanism for the <jats:italic>NONO<\/jats:italic>\u2010associated syndromic disorder.<\/jats:p>","DOI":"10.1002\/ajmg.a.63044","type":"journal-article","created":{"date-parts":[[2022,11,25]],"date-time":"2022-11-25T11:11:56Z","timestamp":1669374716000},"page":"469-478","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Genetic and phenotypic spectrum in the <scp><i>NONO<\/i><\/scp>\u2010associated syndromic disorder"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1539-6450","authenticated-orcid":false,"given":"Franziska","family":"Roessler","sequence":"first","affiliation":[{"name":"Institute of Human Genetics University of Leipzig Medical Center  Leipzig Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita 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