{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:17Z","timestamp":1772160077124,"version":"3.50.1"},"reference-count":6,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,4,25]],"date-time":"2024-04-25T00:00:00Z","timestamp":1714003200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,7]]},"abstract":"Abstract<\/jats:title>\n \n Usmani\u2010Riazuddin syndrome (USRISR, MIM# 619548; USRISD, MIM#619467) is a very rare genetic condition. recently associated with deleterious variants in\n AP1G1<\/jats:italic>\n (MIM* 603533). It is characterized by multisystemic involvement including intellectual disability, speech and developmental delay, behavioral anomalies, muscular tone disorders, seizures, limb defects, and unspecified facial gestalt. In this report, we describe this syndrome for the second time, in association to a novel\n AP1G1<\/jats:italic>\n variant identified in a toddler with multisystemic involvement including intellectual disability, speech and developmental delay, behavioral anomalies, arrhythmias, hearing loss, skin changes, and limb defects. Next generation sequencing (NGS) analysis through clinical exome disclosed\n AP1G1<\/jats:italic>\n : c.1969C>G (p.Leu657Val), de novo, likely pathogenic variant, according to ACMG classification criteria. Proband's facial features resembled the spectrum of chromatinopathies. Clinical pictures were analyzed and a clinical overlap was supported by DeepGestalt analysis (\n www.face2gene.com<\/jats:ext-link>\n ). The system identified 6 chromatin disorders out of 30 possible diagnoses. The remaining 24 included 9 miscellaneous cryptic chromosomal abnormalities (excluded due to normal microarray study). To the best of our knowledge, this is the first description of likely distinctive facial features in a patient with Usmani\u2010Riazuddin syndrome. Further multicentric analyses are needed for a better definition of this aspect.\n <\/jats:p>","DOI":"10.1111\/cge.14531","type":"journal-article","created":{"date-parts":[[2024,4,26]],"date-time":"2024-04-26T02:59:25Z","timestamp":1714100365000},"page":"109-113","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Usmani\u2010Riazuddin syndrome can have a recognizable phenotype: Report of a novel\n AP1G1<\/i>\n variant"],"prefix":"10.1111","volume":"106","author":[{"given":"Maria","family":"Gnazzo","sequence":"first","affiliation":[{"name":"Laboratory of Medical Genetics, Translational Cytogenomics Research Unit Bambino Ges\u00f9 Children's Hospital, IRCCS Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2440-7441","authenticated-orcid":false,"given":"Giulia","family":"Pascolini","sequence":"additional","affiliation":[{"name":"Cardiogenetic Center, Rare Diseases and Medical Genetics Units Bambino Ges\u00f9 Children's Hospital, IRCCS Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Parlapiano","sequence":"additional","affiliation":[{"name":"Cardiogenetic Center, Rare Diseases and Medical Genetics Units Bambino Ges\u00f9 Children's Hospital, IRCCS Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Petrizzelli","sequence":"additional","affiliation":[{"name":"Laboratory of Bioinformatics Fondazione IRCCS Casa Sollievo della Sofferenza, S. Giovanni Rotondo (FG) Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniele","family":"Perrino","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Translational Cytogenomics Research Unit Bambino Ges\u00f9 Children's Hospital, IRCCS Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luigina","family":"Porco","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology and Arrhythmia\/Syncope Complex Unit Bambino Ges\u00f9 Children's Hospital, IRCCS Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Bartuli","sequence":"additional","affiliation":[{"name":"Cardiogenetic Center, Rare Diseases and Medical Genetics Units Bambino Ges\u00f9 Children's Hospital, IRCCS Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Novelli","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Translational Cytogenomics Research Unit Bambino Ges\u00f9 Children's Hospital, IRCCS Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9428-4934","authenticated-orcid":false,"given":"Anwar","family":"Baban","sequence":"additional","affiliation":[{"name":"Cardiogenetic Center, Rare Diseases and Medical Genetics Units Bambino Ges\u00f9 Children's Hospital, IRCCS Rome Italy"},{"name":"The European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD\u2010Heart) Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,4,25]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/emboj.2010.15"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.conb.2018.02.021"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2012.08.023"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.05.007"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000296"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.19815"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14531","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,3]],"date-time":"2024-06-03T00:50:04Z","timestamp":1717375804000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14531"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,25]]},"references-count":6,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,7]]}},"alternative-id":["10.1111\/cge.14531"],"URL":"https:\/\/doi.org\/10.1111\/cge.14531","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14531\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14531\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14531\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14531\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14531\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14531\/v2\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14531\/v2\/review1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,4,25]]},"assertion":[{"value":"2024-02-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-02","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-25","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}