{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T06:57:42Z","timestamp":1769065062934,"version":"3.49.0"},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2008,8,28]],"date-time":"2008-08-28T00:00:00Z","timestamp":1219881600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2009,2]]},"abstract":"<jats:p>Somatic mutations of the phosphatase and tensin (<jats:italic>PTEN<\/jats:italic>) gene have been frequently detected in many types of human cancer. However, germline mutations can determine multiple hamartoma syndromes and, as more recently ascertained, syndromes clinically characterized by autism associated with macrocephaly. To determine whether germline mutations of <jats:italic>PTEN <\/jats:italic>may lead to different phenotypes, we screened all the nine exons of the <jats:italic>PTEN <\/jats:italic>gene in 40 patients with neurodevelopmental disorders, with or without features of autism spectrum disorder, associated with macrocephaly. Three novel <jats:italic>de novo <\/jats:italic>missense mutations were found (p.H118P, p.Y176C, p.N276S) in two severely mentally retarded patients with autism and in a subject with neurodevelopmental disorders without autistic features. Our results provide evidence that <jats:italic>PTEN <\/jats:italic>germline mutations may sustain a more wide phenotypical spectrum than previously suggested.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2008.01074.x","type":"journal-article","created":{"date-parts":[[2009,1,23]],"date-time":"2009-01-23T12:19:13Z","timestamp":1232713153000},"page":"195-198","source":"Crossref","is-referenced-by-count":96,"title":["Novel <i>PTEN <\/i>mutations in neurodevelopmental disorders and macrocephaly"],"prefix":"10.1111","volume":"75","author":[{"given":"A","family":"Orrico","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Galli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Buoni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Orsi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Vonella","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V","family":"Sorrentino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,1,23]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2006.09.003"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1477"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.8.1461"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1086\/508943"},{"issue":"6","key":"e_1_2_5_6_2","first-page":"589","article-title":"Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly","volume":"143","author":"Butler MG","year":"2007","journal-title":"Am J Med Genet A"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30493"},{"issue":"6","key":"e_1_2_5_8_2","first-page":"89","article-title":"Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly","volume":"143","author":"Herman GE","year":"2007","journal-title":"Am J Med Genet part"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1023036509476"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001211)95:4<339::AID-AJMG9>3.0.CO;2-B"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(05)62956-X"},{"key":"e_1_2_5_12_2","first-page":"585","article-title":"PTEN and phosphatidylinositol 3\u2032\u2010kinase inhibitors up\u2010regulate p53 and block tumor\u2010induced angiogenesis: evidence for an effect on the tumor and endothelial compartment","volume":"63","author":"Su JD","year":"2003","journal-title":"Cancer Res"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2006.11.042"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.275.5308.1943"},{"issue":"12","key":"e_1_2_5_15_2","first-page":"3147","article-title":"Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay","volume":"60","author":"Han S\u2010Y","year":"2000","journal-title":"Cancer Res"},{"key":"e_1_2_5_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2006.11.040"},{"key":"e_1_2_5_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroscience.2007.10.048"},{"key":"e_1_2_5_18_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10434-001-0319-7"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2008.01074.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2008.01074.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T01:22:15Z","timestamp":1696900935000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2008.01074.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,1,23]]},"references-count":17,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2009,2]]}},"alternative-id":["10.1111\/j.1399-0004.2008.01074.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2008.01074.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,1,23]]}}}