{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T10:02:12Z","timestamp":1779789732258,"version":"3.53.1"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,6,29]],"date-time":"2025-06-29T00:00:00Z","timestamp":1751155200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,6,29]],"date-time":"2025-06-29T00:00:00Z","timestamp":1751155200000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    <jats:italic>TRRAP<\/jats:italic>\n                    encodes a multidomain pseudokinase involved in histone acetyltransferase complexes.\n                    <jats:italic>TRRAP<\/jats:italic>\n                    pathogenic variants were linked to neurodevelopmental disorders, intellectual disability, congenital anomalies, and hearing loss. We report on three unrelated patients with\n                    <jats:italic>TRRAP<\/jats:italic>\n                    missense variants. Patient #1, a girl with severe intellectual disability, autism features, and preaxial polydactyly, displays the c.5575C&gt;T, p.(Arg1859Cys) variant. Patient #2, a boy with developmental delay and facial anomalies, harbors the c.5647G&gt;A, p.(Gly1883Arg) variant. Patient #3, a girl with developmental delay, epilepsy, and renal artery stenosis, carries the c.8572C&gt;T, p.(Arg2858Trp) variant. These new cases broaden the\n                    <jats:italic>TRRAP<\/jats:italic>\n                    phenotypic spectrum, updating genotype\u2013phenotype correlations. Osteoclast differentiation in Patient #1 and TRRAP expression in osteoclasts and osteoblasts were analyzed, leading to the assumption of a role of TRRAP in bone remodeling and in the observed skeletal anomalies.\n                  <\/jats:p>","DOI":"10.1111\/cge.70013","type":"journal-article","created":{"date-parts":[[2025,6,29]],"date-time":"2025-06-29T22:34:23Z","timestamp":1751236463000},"page":"181-187","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Further Exploring the TRRAP Genotype\u2013Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies"],"prefix":"10.1111","volume":"109","author":[{"given":"Chiara","family":"Minotti","sequence":"first","affiliation":[{"name":"Department of Biomedicine and Prevention Tor Vergata University  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Terreri","sequence":"additional","affiliation":[{"name":"Bone Physiopathology Research Unit, Translational Pediatrics and Clinical Genetics Research Division Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Del Fattore","sequence":"additional","affiliation":[{"name":"Bone Physiopathology Research Unit, Translational Pediatrics and Clinical Genetics Research Division Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca Romana","family":"Lepri","sequence":"additional","affiliation":[{"name":"Translational Cytogenomics Research Unit Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0582-2017","authenticated-orcid":false,"given":"Rosario","family":"Ruta","sequence":"additional","affiliation":[{"name":"Translational Cytogenomics Research Unit Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Iascone","sequence":"additional","affiliation":[{"name":"Laboratorio di Genetica Medica ASST Papa Giovanni XXIII  Bergamo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Pezzoli","sequence":"additional","affiliation":[{"name":"Laboratorio di Genetica Medica ASST Papa Giovanni XXIII  Bergamo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9505-5906","authenticated-orcid":false,"given":"Maria Lisa","family":"Dentici","sequence":"additional","affiliation":[{"name":"Rare Diseases and Medical Genetics Unit Bambino Ges\u00f9 Children's Hospital, IRCSS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Novelli","sequence":"additional","affiliation":[{"name":"Translational Cytogenomics Research Unit Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"},{"name":"UniCamillus Saint Camillus International University of Health Sciences  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelina","family":"Armando","sequence":"additional","affiliation":[{"name":"Neuroscience and Neurorehabilitation Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Longo","sequence":"additional","affiliation":[{"name":"Neuroradiology Unit Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Novelli","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Prevention Tor Vergata University  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domenico","family":"Barbuti","sequence":"additional","affiliation":[{"name":"Diagnostic and Interventional Radiology Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Bartuli","sequence":"additional","affiliation":[{"name":"Rare Diseases and Medical Genetics Unit Bambino Ges\u00f9 Children's Hospital, IRCSS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ugo","family":"Cavallari","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Laboratory Department Grande Ospedale Metropolitano Niguarda  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7217-7388","authenticated-orcid":false,"given":"Ludovico","family":"Graziani","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Prevention Tor Vergata University  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0205-9634","authenticated-orcid":false,"given":"Maria Cristina","family":"Digilio","sequence":"additional","affiliation":[{"name":"Rare Diseases and Medical Genetics Unit Bambino Ges\u00f9 Children's Hospital, IRCSS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1371-936X","authenticated-orcid":false,"given":"Lorenzo","family":"Sinibaldi","sequence":"additional","affiliation":[{"name":"Rare Diseases and Medical Genetics Unit Bambino Ges\u00f9 Children's Hospital, IRCSS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,6,29]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1210605"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1128\/MMBR.64.2.435\u2010459.2000"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.01.010"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13590"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098\u2010024\u201005115\u2010z"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010024\u201065227\u20106"},{"key":"e_1_2_12_9_1","volume-title":"TRRAP Associated Neurodevelopmental Disorder: A Case Report","author":"Clay S. 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