{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T07:11:25Z","timestamp":1787987485344,"version":"build-2784847793"},"reference-count":14,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2023,4,17]],"date-time":"2023-04-17T00:00:00Z","timestamp":1681689600000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>PUS7<\/jats:italic> gene pathogenic variants cause a deficiency in an RNA\u2010independent pseudouridine synthase, which results in a neurodevelopmental phenotype characterized by various degrees of psychomotor delay, acquired microcephaly, aggressive behavior, and intellectual disability. Since 2018, PUS7 deficiency has been described in 15 patients with different pathogenic variants but similar clinical phenotypes. We describe the case of a male infant with a homozygous truncating pathogenic variant in the <jats:italic>PUS7<\/jats:italic> gene (c.329_332delCTGA; p.Thr110Argfs*4) who, in addition to the previously mentioned features, displays self\u2010injurious behavior, sleep disturbances and motor stereotypies.<\/jats:p>","DOI":"10.1002\/ajmg.a.63212","type":"journal-article","created":{"date-parts":[[2023,4,17]],"date-time":"2023-04-17T12:04:10Z","timestamp":1681733050000},"page":"1953-1958","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["A <i>PUS7<\/i> gene pathogenic variant causing self\u2010injurious behavior, sleep disturbances, and developmental delay: A case report"],"prefix":"10.1002","volume":"191","author":[{"given":"Alice","family":"Muda","sequence":"first","affiliation":[{"name":"Department of Clinical and Experimental Sciences University of Brescia  Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7571-9103","authenticated-orcid":false,"given":"Laura","family":"Malerba","sequence":"additional","affiliation":[{"name":"Unit of Child Neurology and Psychiatry ASST\u2010Spedali Civili of Brescia  Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6736-4330","authenticated-orcid":false,"given":"Lucio","family":"Giordano","sequence":"additional","affiliation":[{"name":"Unit of Child Neurology and Psychiatry ASST\u2010Spedali Civili of Brescia  Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Fazzi","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Sciences University of Brescia  Brescia Italy"},{"name":"Unit of Child Neurology and Psychiatry ASST\u2010Spedali Civili of Brescia  Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrizia","family":"Accorsi","sequence":"additional","affiliation":[{"name":"Unit of Child Neurology and Psychiatry ASST\u2010Spedali Civili of Brescia  Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,4,17]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature18282"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/421530"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-015-0465-x"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1080\/152165400410182"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000356"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.10.026"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2018.03.008"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2022.01.103"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2016.05.004"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.192"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.sjbs.2020.09.033"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2014.08.028"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-016-1665-7"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-019-01980-3"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63212","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,31]],"date-time":"2024-07-31T02:49:26Z","timestamp":1722394166000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63212"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4,17]]},"references-count":14,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2023,7]]}},"alternative-id":["10.1002\/ajmg.a.63212"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63212","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,4,17]]},"assertion":[{"value":"2023-02-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-04-04","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-04-17","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}