{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T11:08:18Z","timestamp":1792062498671,"version":"4.4.0"},"reference-count":25,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2010,5,18]],"date-time":"2010-05-18T00:00:00Z","timestamp":1274140800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Autism Research"],"published-print":{"date-parts":[[2010,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>There is a strong genetic component to autism spectrum disorders (ASD), but due to significant genetic heterogeneity, individual genetic abnormalities contribute a small percentage to the overall total. Previous studies have demonstrated <jats:italic>PTEN<\/jats:italic> mutations in a sizable proportion of individuals with ASD or mental retardation\/developmental delays (MR\/DD) and macrocephaly that do not have features of Cowden or Bannayan\u2013Riley\u2013Ruvalcaba syndrome. This study was performed to confirm our previous results. We reviewed the charts of individuals who had <jats:italic>PTEN<\/jats:italic> clinical sequencing performed at our institution from January 2008 to July 2009. There were 93 subjects tested from our institution during that period. <jats:italic>PTEN<\/jats:italic> mutations were found in 2\/39 (5.1%) ASD patients and 2\/51 (3.9%) MR\/DD patients. Three additional patients without mutations had no diagnostic information. Multiple relatives of individuals with a <jats:italic>PTEN<\/jats:italic> mutation had macrocephaly, MR, or early onset cancer (breast, renal, and prostate). Of those relatives tested, all had the familial <jats:italic>PTEN<\/jats:italic> mutation. None of the affected relatives had previously been diagnosed with Cowden or Bannayan\u2013Riley\u2013Ruvalcaba syndrome. We noted in our previous study several adult relatives without any findings who carried a mutation. Combined with data from our previous cohort, we have found <jats:italic>PTEN<\/jats:italic> mutations in 7\/99 (7.1%) of individuals with ASD and 8\/100 (8.0%) of individuals with MR\/DD, all of whom had macrocephaly. We recommend testing for mutations in <jats:italic>PTEN<\/jats:italic> for individuals with ASD or MR\/DD and macrocephaly. If mutations are found, other family members should be offered testing and the adults offered cancer screening if they have a <jats:italic>PTEN<\/jats:italic> mutation.<\/jats:p>","DOI":"10.1002\/aur.132","type":"journal-article","created":{"date-parts":[[2010,5,19]],"date-time":"2010-05-19T01:10:25Z","timestamp":1274231425000},"page":"137-141","source":"Crossref","is-referenced-by-count":211,"title":["Confirmation study of <i>PTEN<\/i> mutations among individuals with autism or developmental delays\/mental retardation and macrocephaly"],"prefix":"10.1002","volume":"3","author":[{"given":"Kim L.","family":"McBride","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth A.","family":"Varga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew T.","family":"Pastore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas W.","family":"Prior","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kandamurugu","family":"Manickam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joan F.","family":"Atkin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gail E.","family":"Herman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,6,23]]},"reference":[{"key":"e_1_2_2_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2346"},{"key":"e_1_2_2_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/13810"},{"key":"e_1_2_2_4_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1026004501631"},{"key":"e_1_2_2_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.024646"},{"key":"e_1_2_2_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30493"},{"key":"e_1_2_2_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature07458"},{"key":"e_1_2_2_8_1","unstructured":"Daly M.B.(2009). NCCN Clinical Practice Guidelines in Oncology. 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