{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,26]],"date-time":"2026-07-26T15:02:26Z","timestamp":1785078146842,"version":"3.55.0"},"reference-count":30,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T00:00:00Z","timestamp":1783900800000},"content-version":"vor","delay-in-days":12,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen & Gen Med"],"published-print":{"date-parts":[[2026,7]]},"abstract":"ABSTRACT<\/jats:title>\n \n Introduction<\/jats:title>\n \n Loss\u2010of\u2010function variants in\n NONO<\/jats:italic>\n cause an X\u2010linked syndromic neurodevelopmental disorder (MRXS34), characterized by developmental delay, corpus callosum abnormalities, dysmorphic features, feeding difficulties, and congenital heart disease, most commonly left ventricular noncompaction cardiomyopathy (LVNC). Long\u2010term outcome data remain limited.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n A 14\u2010year\u2010old boy with LVNC and syndromic neurodevelopmental features underwent exome sequencing and subsequently\n NONO<\/jats:italic>\n transcript analysis. A literature search was conducted using the terms \u201c\n NONO<\/jats:italic>\n variant\u201d and \u201c\n NONO<\/jats:italic>\n mutation\u201d.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Exome sequencing identified a hemizygous\n NONO variant,<\/jats:italic>\n c.348G>A, absent from population databases. This silent mutation was predicted in silico to cause exon 4 skipping, resulting in a frameshift and a premature termination codon p.(Asn52Argfs*31). This prediction was confirmed by RT\u2010PCR, and it was demonstrated that the aberrant transcript was subject to nonsense\u2010mediated mRNA decay. The patient displayed the characteristic\n NONO<\/jats:italic>\n \u2010associated phenotype with rapid cardiac deterioration requiring pulsatile left ventricular assist device implantation at 1 year of age, and orthotopic heart transplantation at 2\u2009years of age. At 14\u2009years, graft function remains stable. An emergency hemicolectomy due to volvulus was performed at 12\u2009years of age. A literature search identified 32 live\u2010born patients and 11 fetuses with\n NONO<\/jats:italic>\n loss\u2010of\u2010function mutations. Intellectual disability, particularly affecting language development, LVNC, a recognizable facial phenotype, dystrophy, and lean habitus were nearly invariantly present.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n This report further emphasizes the core phenotype caused by\n NONO<\/jats:italic>\n loss\u2010of\u2010function, describes the second individual with heart transplantation, and indicates an underrecognized prevalence of gastrointestinal features.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/mgg3.70261","type":"journal-article","created":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T05:03:49Z","timestamp":1784005429000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Heart Transplant for Noncompaction Cardiomyopathy in\n \n NONO<\/i>\n <\/scp>\n \u2010Related Syndromic Intellectual Disability"],"prefix":"10.1002","volume":"14","author":[{"given":"Julia S.","family":"Singer","sequence":"first","affiliation":[{"name":"Department of Pediatrics I Medical University of Innsbruck Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorota","family":"Garczarczyk\u2010Asim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics I Medical University of Innsbruck Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3626-3270","authenticated-orcid":false,"given":"Miriam","family":"Michel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics III Medical University of Innsbruck Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"M\u00fcller","sequence":"additional","affiliation":[{"name":"Department of Pediatrics I Medical University of Innsbruck Innsbruck 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