Association of CDH11 with non‐syndromic ASD. Issue 5 (19th May 2014)

• Record Type: Journal Article
• Authors: Crepel, An; De Wolf, Veerle; Brison, Nathalie; Ceulemans, Berten; Walleghem, Didier; Peuteman, Gilian; Lambrechts, Diether; Steyaert, Jean; Noens, Ilse; Devriendt, Koen; Peeters, Hilde
• Is Part Of: American journal of medical genetics. Volume 165:Issue 5(2014)
• Page Start: 391
• Page End: 398
• Publication Date: 2014-05-19
• Subjects: Neuropsychiatry -- Periodicals; Medical genetics -- Periodicals; 616.8904205
• DOI: 10.1002/ajmg.b.32243
• Languages: English
• ISSNs: 1552-4841

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmgb32243-sec-0001" sec-type="section"> <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 <italic>CADHERIN 11 (CDH11)</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 <italic>CDH11</italic> to ASD. A case‐control 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 [<italic>P</italic> = 0.0049 (Chi‐square = 7.90 1 df) and O.R. 3.88 C.I. = 1.403–10.733]. There was no association for C/T versus T/T [<italic>P</italic> = 0.6772 (Chi‐square = 0.17 1 df)] nor was there association at the allelic level [<italic>P</italic> = 0.4373 (Chi‐square = 0.6 1 df)]. In addition to the association of common variants in <italic>CDH11</italic> with ASD, we studied the possible contribution of rare variants by sequencing <italic>CDH11</italic> in 247 patients, and found three novel variants in the coding region of <italic>CDH1</italic>, of which two variants were unlikely to be causal. Targeted CNV screening in these 247 patients did not reveal copy number variation in <italic>CDH11</italic>. In conclusion, the data provide evidence for the involvement of <italic>CDH11</italic> in ASD which is consistent with the association of other cadherins with ASD and neuropsychiatric diseases. © 2014 Wiley Periodicals, Inc.</p> </sec> </abstract>