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However despite widespread genetic screening for mutations, in approximately 40\u201360% of childhood developmental disorders the genetic cause remains unknown. Several genome\u2010wide linkage screens in ASD have identified a locus mapping to distal 8q. We have recently identified a novel brain\u2010specific imprinted cluster at this location, which contains the reciprocally expressed maternal <jats:italic>KCNK9<\/jats:italic> and paternally expressed non\u2010coding <jats:italic>PEG13<\/jats:italic> transcripts, the latter located within an intron of <jats:italic>TRAPPC9<\/jats:italic>. Interestingly, mutations of <jats:italic>KCNK9<\/jats:italic> and <jats:italic>TRAPPC9<\/jats:italic> have been reported in Birk\u2010Barel mental retardation and non\u2010syndromic familial forms of ID, respectively.<\/jats:p><jats:p>Here, we report a genetic screen for <jats:italic>KCNK9<\/jats:italic> coding mutations and potential epigenetic aberrations that could result in deregulated imprinting in a cohort of 120 ID, 86 ASD and 86 Tourette syndrome patients. Fifteen of the ID patients had clinical characteristics overlapping with Birk\u2010Barel syndrome. Sequencing of the two coding exons of <jats:italic>KCNK9<\/jats:italic> failed to identify pathologic mutations, with only one variant, rs2615374, being present with allele frequencies similar to those described in dbSNP database. DNA methylation profiling of the <jats:italic>KCNK9<\/jats:italic> and <jats:italic>TRAPPC9<\/jats:italic> promoters, the maternally methylated <jats:italic>PEG13<\/jats:italic> DMR and a long\u2010range enhancer region were normal in all patients. Our findings suggest that mutations of <jats:italic>KCNK9<\/jats:italic> or epigenetic disturbances within the <jats:italic>PEG13<\/jats:italic> imprinted cluster do not significantly contribute to the cause of the developmental disabilities tested in this study. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.b.32250","type":"journal-article","created":{"date-parts":[[2014,7,1]],"date-time":"2014-07-01T21:14:43Z","timestamp":1404249283000},"page":"472-478","source":"Crossref","is-referenced-by-count":19,"title":["Screening individuals with intellectual disability, autism and Tourette's syndrome for <i>KCNK9<\/i> mutations and aberrant DNA methylation within the 8q24 imprinted cluster."],"prefix":"10.1002","volume":"165","author":[{"given":"Marta S\u00e1nchez","family":"Delgado","sequence":"first","affiliation":[{"name":"Imprinting and Cancer Group, Cancer Epigenetics and Biology Program (PEBC) Bellvitge Institute for Biomedical Research (IDIBELL) L'Hospitalet de Llobregat 08907 Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Camprub\u00ed","sequence":"additional","affiliation":[{"name":"Imprinting and Cancer Group, Cancer Epigenetics and Biology Program (PEBC) Bellvitge Institute for Biomedical Research (IDIBELL) L'Hospitalet de Llobregat 08907 Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zeynep","family":"T\u00fcmer","sequence":"additional","affiliation":[{"name":"Applied Human Molecular Genetics, Kennedy Centre Copenhagen University Hospital, Rigshospitalet Glostrup Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francisco","family":"Mart\u00ednez","sequence":"additional","affiliation":[{"name":"Unitat de Gen\u00e8tica Hospital Universitario La Fe Valencia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Montserrat","family":"Mil\u00e0","sequence":"additional","affiliation":[{"name":"Cap de 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