{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T09:13:09Z","timestamp":1791105189517,"version":"4.1.0"},"reference-count":43,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2011,2,22]],"date-time":"2011-02-22T00:00:00Z","timestamp":1298332800000},"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":[[2011,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>About 80% of cases with autism express intellectual disability. Both in autism and in mental retardation without autism the majority of the cases are males, suggesting a X\u2010chromosomal effect. In fact, some molecular evidence has been obtained for a common genetic background for autism spectrum disorders (ASD) and X\u2010linked mental retardation (XLMR). In several genome\u2010wide scans (GWS), evidence for linkage at X\u2010chromosome has been reported including the GWS of Finnish ASD families with the highest multipoint lod score (MLS) of 2.75 obtained close to DXS7132 at Xq11.1. To further dissect the relationship between autism and genes implicated in XLMR, we have fine\u2010mapped Xq11.1\u2010q21.33 and analyzed five candidate genes in the region. We refined the region using 26 microsatellite markers and linkage analysis in 99 Finnish families with ASD. The most significant evidence for linkage was observed at DXS1225 on Xq21.1 with a nonparametric multipoint NPL<jats:sub>all<\/jats:sub> value of 3.43 (<jats:italic>P<\/jats:italic> = 0.0004). We sequenced the coding regions and splice sites of <jats:italic>RPS6KA6<\/jats:italic> and <jats:italic>ZNF711<\/jats:italic> residing at the peak region in 42 male patients from families contributing to the linkage. We also analyzed <jats:italic>ACSL4<\/jats:italic> and <jats:italic>DLG3<\/jats:italic>, which have previously been known to cause XLMR and <jats:italic>IL1RAPL2<\/jats:italic>, a homologous gene for <jats:italic>IL1RAPL1<\/jats:italic> that is mutated in autism and XLMR. A total of six novel and 11 known single nucleotide polymorphisms were identified. Further studies are warranted to analyze the candidate genes at Xq11.1\u2010q21.33. <jats:bold><jats:italic>Autism Res<\/jats:italic><\/jats:bold> <jats:italic>2011,4:228\u2013233<\/jats:italic>. \u00a9 2011 International Society for Autism Research, Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/aur.187","type":"journal-article","created":{"date-parts":[[2011,2,23]],"date-time":"2011-02-23T17:09:55Z","timestamp":1298480995000},"page":"228-233","source":"Crossref","is-referenced-by-count":25,"title":["Fine mapping of Xq11.1\u2010q21.33 and mutation screening of <i>RPS6KA6, ZNF711<\/i>, <i>ACSL4, DLG3<\/i>, and <i>IL1RAPL2<\/i> for autism spectrum disorders (ASD)"],"prefix":"10.1002","volume":"4","author":[{"given":"Katri","family":"Kantoj\u00e4rvi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilona","family":"Kotala","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karola","family":"Rehnstr\u00f6m","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tero","family":"Ylisaukko\u2010oja","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raija","family":"Vanhala","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taina Nieminen","family":"von Wendt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lennart","family":"von Wendt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irma","family":"J\u00e4rvel\u00e4","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,2,22]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng786"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/342720"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1985"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.07.019"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00920.x"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201994"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2008.01.009"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.5.353"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M408194200"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(01)00659-X"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2009.05.002"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature07953"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1001\/archgenpsychiatry.2009.80"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpsyc.1996.01830110021003"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1375\/twin.8.1.16"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1136"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200415"},{"key":"e_1_2_6_19_1","first-page":"197","article-title":"X\u2010linked 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