{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:15Z","timestamp":1772160075679,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,8,9]],"date-time":"2023-08-09T00:00:00Z","timestamp":1691539200000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Pitt\u2010Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder characterised by severe intellectual disability (ID), distinctive facial features and autonomic nervous system dysfunction, caused by\n                    <jats:italic>TCF4<\/jats:italic>\n                    haploinsufficiency. We clinically diagnosed with PTHS a 14\n                    <jats:sup>6\/12<\/jats:sup>\n                    \u2010year\u2010old female, who had a normal status of\n                    <jats:italic>TCF4<\/jats:italic>\n                    . The pathogenic c.667del (p.Asp223MetfsTer45) variant in\n                    <jats:italic>SOX11<\/jats:italic>\n                    was identified through whole exome sequencing (WES).\n                    <jats:italic>SOX11<\/jats:italic>\n                    variants were initially reported to cause Coffin\u2010Siris syndrome (CSS), characterised by growth restriction, moderate ID, coarse face, hypertrichosis and hypoplastic nails. However, recent studies have provided evidence that they give rise to a distinct neurodevelopmental disorder. To date,\n                    <jats:italic>SOX11<\/jats:italic>\n                    variants are associated with a variable phenotype, which has been described to resemble CSS in some cases, but never PTHS. By reviewing both clinically and genetically 32 out of 82 subjects reported in the literature with\n                    <jats:italic>SOX11<\/jats:italic>\n                    variants, for whom detailed information are provided, we found that 7\/32 (22%) had a clinical presentation overlapping PTHS. Furthermore, we made a confirmation that overall\n                    <jats:italic>SOX11<\/jats:italic>\n                    abnormalities feature a distinctive disorder characterised by severe ID, high incidence of microcephaly and low frequency of congenital malformations. Purpose of the present report is to enhance the role of clinical genetics in assessing the individual diagnosis after WES results.\n                  <\/jats:p>","DOI":"10.1111\/cge.14414","type":"journal-article","created":{"date-parts":[[2023,8,9]],"date-time":"2023-08-09T19:59:22Z","timestamp":1691611162000},"page":"81-86","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Pathogenic variants in\n                    <i>SOX11<\/i>\n                    mimicking\n                    <scp>Pitt\u2010Hopkins<\/scp>\n                    syndrome phenotype"],"prefix":"10.1111","volume":"105","author":[{"given":"Domizia","family":"Pasquetti","sequence":"first","affiliation":[{"name":"Genomic Medicine Policlinico Universitario \"A. Gemelli\" Foundation IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federica Francesca","family":"L'Erario","sequence":"additional","affiliation":[{"name":"Genomic Medicine Policlinico Universitario \"A. Gemelli\" Foundation IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Marangi","sequence":"additional","affiliation":[{"name":"Genomic Medicine Policlinico Universitario \"A. Gemelli\" Foundation IRCCS  Rome Italy"},{"name":"Department of Life Sciences and Public Health Catholic University  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arianna","family":"Panfili","sequence":"additional","affiliation":[{"name":"Scientific Directorate Policlinico Universitario \u201cA.Gemelli\u201d Foundation IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pietro","family":"Chiurazzi","sequence":"additional","affiliation":[{"name":"Genomic Medicine Policlinico Universitario \"A. Gemelli\" Foundation IRCCS  Rome Italy"},{"name":"Department of Life Sciences and Public Health Catholic University  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Sonnini","sequence":"additional","affiliation":[{"name":"Genomic Medicine Policlinico Universitario \"A. Gemelli\" Foundation IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Orteschi","sequence":"additional","affiliation":[{"name":"Genomic Medicine Policlinico Universitario \"A. Gemelli\" Foundation IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2197-9417","authenticated-orcid":false,"given":"Paolo","family":"Alfieri","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Child and Adolescent Neuropsychiatry Unit Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"TUDP Study Group","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuela","family":"Morleo","sequence":"additional","affiliation":[{"name":"Department of Precision Medicine University of Campania \"Luigi Vanvitelli\"  Naples Italy"},{"name":"Telethon Institute of Genetics and Medicine (TIGEM)  Pozzuoli Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincenzo","family":"Nigro","sequence":"additional","affiliation":[{"name":"Department of Precision Medicine University of Campania \"Luigi Vanvitelli\"  Naples Italy"},{"name":"Telethon Institute of Genetics and Medicine (TIGEM)  Pozzuoli Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4871-9519","authenticated-orcid":false,"given":"Marcella","family":"Zollino","sequence":"additional","affiliation":[{"name":"Genomic Medicine Policlinico Universitario \"A. Gemelli\" Foundation IRCCS  Rome Italy"},{"name":"Department of Life Sciences and Public Health Catholic University  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,8,9]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13506"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1055\/s\u20100035\u20101564570"},{"key":"e_1_2_11_4_1","volume-title":"GeneReviews\u00ae","author":"Schrier Vergano S","year":"1993"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms5011"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.02.013"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12859\u2010018\u20102532\u20104"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62851"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/cga.12242"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102015\u2010103393"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12886\u2010020\u201001788\u20100"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038\u2010019\u20100667\u20104"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12060937"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.940776"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnins.2021.802583"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010021\u201000865\u20102"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1177\/1055665617739312"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000348"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63011"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jfma.2021.03.010"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010018\u20100330\u2010z"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14414","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,12,28]],"date-time":"2023-12-28T21:12:11Z","timestamp":1703797931000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14414"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,9]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,1]]}},"alternative-id":["10.1111\/cge.14414"],"URL":"https:\/\/doi.org\/10.1111\/cge.14414","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14414\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14414\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14414\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14414\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14414\/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":[[2023,8,9]]},"assertion":[{"value":"2023-06-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-07-27","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-09","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}