{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T20:34:38Z","timestamp":1788813278104,"version":"build-2803163510"},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,2,4]],"date-time":"2019-02-04T00:00:00Z","timestamp":1549238400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81501299"],"award-info":[{"award-number":["81501299"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Brain and Behavior"],"published-print":{"date-parts":[[2019,3]]},"abstract":"Abstract<\/jats:title>Background<\/jats:title>Pettigrew syndrome (PGS<\/jats:styled-content>) is a rare X\u2010linked mental retardation that caused by AP<\/jats:styled-content>1S2 mutation. The pathogenesis of AP<\/jats:styled-content>1S2 deficiency has remained elusive. The purpose of this study is to give a comprehensive overview of the phenotypic and genetic spectrum of AP<\/jats:styled-content>1S2 mutations.<\/jats:p><\/jats:sec>Methods<\/jats:title>This study systematically analyzed clinical features and genetic information of a Chinese family with AP<\/jats:styled-content>1S2 variation, and reviewed previously reported literatures with the same gene variation.<\/jats:p><\/jats:sec>Results<\/jats:title>We identified a new c.1\u20101 G>C mutation in AP<\/jats:styled-content>1S2 gene from a four generation family with seven affected individuals and found the elevated neuron\u2010specific enolase (NSE<\/jats:styled-content>) in a patient. We summarized the clinical manifestation of 59 patients with AP<\/jats:styled-content>1S2 mutation. We found that pathogenic point mutations affecting AP<\/jats:styled-content>1S2 are associated with dysmorphic features and neurodevelopmental problems, which included highly variable mental retardation (MR<\/jats:styled-content>), delayed in walking, abnormal speech, hypotonia, abnormal brain, abnormal behavior including aggressive behavior, ASD<\/jats:styled-content>, self\u2010abusive, and abnormal gait. Patients with splice site mutation were more likely to lead to seizures. By contrast, patients with nonsense mutations are more susceptible to microcephaly.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>Our findings suggest AP<\/jats:styled-content>1S2 mutations contribute to a broad spectrum of neurodevelopmental disorders and are important in the etiological spectrum of PGS<\/jats:styled-content>.<\/jats:p><\/jats:sec>","DOI":"10.1002\/brb3.1221","type":"journal-article","created":{"date-parts":[[2019,2,4]],"date-time":"2019-02-04T08:43:55Z","timestamp":1549269835000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["A novel splice site mutation in AP<\/scp>1S2<\/i> gene for X\u2010linked mental retardation in a Chinese pedigree and literature review"],"prefix":"10.1002","volume":"9","author":[{"given":"Liang","family":"Huo","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology Shengjing Hospital of China Medical University Shenyang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ziteng","family":"Teng","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Shengjing Hospital of China Medical University Shenyang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2002-4424","authenticated-orcid":false,"given":"Hua","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Shengjing Hospital of China Medical University Shenyang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xueyan","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Shengjing Hospital of China Medical University Shenyang 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