{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T19:17:21Z","timestamp":1774552641100,"version":"3.50.1"},"reference-count":46,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2014,5,19]],"date-time":"2014-05-19T00:00:00Z","timestamp":1400457600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Concerted Research Actions KULeuven","award":["GOA\/12\/015"],"award-info":[{"award-number":["GOA\/12\/015"]}]},{"name":"Foundation Marguerite-Marie Delacroix."}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2014,7]]},"abstract":"<jats:sec><jats:label\/><jats:p>We report a sporadic patient with Autism Spectrum Disorder (ASD), mild intellectual disability and attention deficit hyperactivity disorder (ADHD) with a de novo partial deletion of <jats:italic>CADHERIN 11 (CDH11)<\/jats:italic>. The deletion is associated with one of the breakpoints of a de novo complex chromosomal rearrangement 46,XY,t(3;16;5)(q29;q22;q15)inv4(p14;q21)ins(4;5)(q21;q14.3q15). Cadherins are cell adhesion molecules involved in synaptic plasticity. Since genetic evidence points towards a role for cadherins in ASD, we studied the possible contribution of <jats:italic>CDH11<\/jats:italic> to ASD. A case\u2010control association study for 14 SNP variants in 519 ASD cases and 1,192 controls showed significant overrepresentation of rs7187376C\/C genotypes in the patient group [<jats:italic>P<\/jats:italic>\u2009=\u20090.0049 (Chi\u2010square\u2009=\u20097.90 1\u2009df) and O.R. 3.88 C.I.\u2009=\u20091.403\u201310.733]. There was no association for C\/T versus T\/T [<jats:italic>P<\/jats:italic>\u2009=\u20090.6772 (Chi\u2010square\u2009=\u20090.17 1\u2009df)] nor was there association at the allelic level [<jats:italic>P<\/jats:italic>\u2009=\u20090.4373 (Chi\u2010square\u2009=\u20090.6 1\u2009df)]. In addition to the association of common variants in <jats:italic>CDH11<\/jats:italic> with ASD, we studied the possible contribution of rare variants by sequencing <jats:italic>CDH11<\/jats:italic> in 247 patients, and found three novel variants in the coding region of <jats:italic>CDH1<\/jats:italic>, of which two variants were unlikely to be causal. Targeted CNV screening in these 247 patients did not reveal copy number variation in <jats:italic>CDH11<\/jats:italic>. In conclusion, the data provide evidence for the involvement of <jats:italic>CDH11<\/jats:italic> in ASD which is consistent with the association of other cadherins with ASD and neuropsychiatric diseases. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.b.32243","type":"journal-article","created":{"date-parts":[[2014,5,19]],"date-time":"2014-05-19T04:47:05Z","timestamp":1400474825000},"page":"391-398","source":"Crossref","is-referenced-by-count":21,"title":["Association of <i>CDH11<\/i> with non\u2010syndromic ASD"],"prefix":"10.1002","volume":"165","author":[{"given":"An","family":"Crepel","sequence":"first","affiliation":[{"name":"Center for Human Genetics University Hospitals Leuven, KU Leuven Leuven Belgium"},{"name":"Leuven Autism Research (LAuRes) Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veerle","family":"De Wolf","sequence":"additional","affiliation":[{"name":"Center for Human Genetics University Hospitals Leuven, KU Leuven Leuven Belgium"},{"name":"Leuven Autism Research (LAuRes) Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathalie","family":"Brison","sequence":"additional","affiliation":[{"name":"Center for Human Genetics University Hospitals Leuven, KU Leuven Leuven Belgium"},{"name":"Leuven Autism Research (LAuRes) Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Berten","family":"Ceulemans","sequence":"additional","affiliation":[{"name":"Department of Neurology\u2010Pediatric Neurology, Antwerp University Hospital (UZA) University of Antwerp Edegem Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Didier","family":"Walleghem","sequence":"additional","affiliation":[{"name":"Antwerp Hospital Network ZNA University Child and Adolescent Psychiatry Antwerp Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gilian","family":"Peuteman","sequence":"additional","affiliation":[{"name":"Vesalius Research Center VIB Leuven Belgium"},{"name":"Laboratory for Translational Genetics, Department of Oncology University of Leuven Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diether","family":"Lambrechts","sequence":"additional","affiliation":[{"name":"Vesalius Research Center VIB Leuven Belgium"},{"name":"Laboratory for Translational Genetics, Department of Oncology University of Leuven Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean","family":"Steyaert","sequence":"additional","affiliation":[{"name":"Leuven Autism Research (LAuRes) Leuven Belgium"},{"name":"Department of Child and Adolescent Psychiatry KU Leuven Leuven Belgium"},{"name":"Department of Clinical Genetics, Academic Hospital Maastricht, and Research Institute Growth &amp; 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