Article
2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders.
European journal of human genetics : EJHG - 1 Dec 2011
Liu Xudong, Malenfant Patrick, Reesor Chelsea, Lee Alana, Hudson Melissa L, Harvard Chansonette, Qiao Ying, Persico Antonio M, Cohen Ira L, Chudley Albert E, Forster-Gibson Cynthia, Rajcan-Separovic Evica, Lewis M E Suzanne, Holden Jeanette J A
Abstract excerpt
Reports of unrelated individuals with autism spectrum disorder (ASD) and similar clinical features having overlapping de novo interstitial deletions at 2p15-p16.1 suggest that this region harbors a gene(s) important to the development of autism. We molecularly characterized two such deletions, selecting two genes in this region, exportin 1 (XPO1) and orthodenticle homolog 1 (OTX1) for association studies in three...
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