Eugenia Migliavacca, Christelle Golzio, Katrin Männik, Ian Blumenthal, Edwin C Oh, Louise Harewood, Jack A Kosmicki, Maria Nicla Loviglio, Giuliana Giannuzzi, Loyse Hippolyte, Anne M Maillard, Ali Abdullah Alfaiz, Mieke M van Haelst, Joris Andrieux, James F Gusella, Mark J Daly, Jacques S Beckmann, Sébastien Jacquemont, Michael E Talkowski, Nicholas Katsanis, Alexandre Reymond
The 16p11.2 600 kb copy-number variants (CNVs) are associated with mirror phenotypes on BMI, head circumference, and brain volume and represent frequent genetic lesions in autism spectrum disorders (ASDs) and schizophrenia. Here we interrogated the transcriptome of individuals carrying reciprocal 16p11.2 CNVs. Transcript perturbations correlated with clinical endophenotypes and were enriched for genes associated with ASDs, abnormalities of head size, and ciliopathies. Ciliary gene expression was also perturbed in orthologous mouse models, raising the possibility that ciliary dysfunction contributes to 16p11...
May 7, 2015: American Journal of Human Genetics