{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T15:50:47Z","timestamp":1791561047782,"version":"4.3.4"},"reference-count":7,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T00:00:00Z","timestamp":1780272000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T00:00:00Z","timestamp":1780272000000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Pathogenic variants in\n                    <jats:italic>PUS7<\/jats:italic>\n                    , encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described. We report a novel case with a homozygous pathogenic\n                    <jats:italic>PUS7<\/jats:italic>\n                    variant and present an updated review of all cases published between 2018 and 2025. Across 17 cases, the most frequent features were moderate\/severe intellectual disability, delayed\/absent speech, aggressive behavior, microcephaly, mild facial dysmorphisms, motor delay, and short stature. These features are common but non\u2010specific, with the exception of aggressiveness that manifests at a very early age. Less common but more peculiar findings included sensorineural hearing loss, autistic traits, self\u2010injurious behavior, and motor stereotypies. The combination of core features with these more specific symptoms should prompt suspicion of a\n                    <jats:italic>PUS7<\/jats:italic>\n                    \u2010related disorder. We recommend looking for\n                    <jats:italic>PUS7<\/jats:italic>\n                    pathological variants when performing whole exome sequencing in children with this constellation of neurodevelopmental and behavioral signs.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70220","type":"journal-article","created":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T03:14:43Z","timestamp":1780370083000},"page":"2547-2552","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["<i>PUS7<\/i>\n                    Deficiency: Phenotypical Expansion of\n                    <i>PUS7<\/i>\n                    \u2010Related Neurodevelopmental Disorders"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-3401-6994","authenticated-orcid":false,"given":"Alice","family":"Muda","sequence":"first","affiliation":[{"name":"Department of Clinical and Experimental Sciences University of Brescia  Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Belmessieri","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Sciences University 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"}]},{"given":"Jessica","family":"Galli","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"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6346-1988","authenticated-orcid":false,"given":"Edoardo","family":"Errichiello","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics, Department of Molecular Medicine University of Pavia  Pavia Italy"},{"name":"Neurogenetics Research Center IRCCS Mondino Foundation  Pavia 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"}]}],"member":"311","published-online":{"date-parts":[[2026,6,1]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000356"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.10.026"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2022.01.103"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63212"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.sjbs.2020.09.033"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-019-01980-3"}],"container-title":["American Journal of Medical Genetics Part 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