title: Neurexin 1alpha structural variants associated with autism.
abstract: Neurexins are presynaptic membrane cell-adhesion molecules which bind to neuroligins, a family of proteins that are associated with autism. To explore the possibility that structural variants in the neurexin alpha genes predispose to autism, the coding regions and associated splice junctions of the neurexin 1alpha gene were sequenced in 116 Caucasian patients with autism and 192 Caucasian controls. Five ultra-rare structural variants including a predicted splicing mutation were found in patients with autism and absent in 10,000 control alleles. Only one ultra-rare structural variant was found in controls (5/116 vs. 1/192; P=0.03, Fisher's exact test, one-sided). In the context of all available data, the ultra-rare structural variants of the neurexin 1alpha gene are consistent with mutations predisposing to autism.
authors.affiliation: Department of Molecular Genetics, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010-3000, USA.
authors.forename: Jin
authors.initials: J
authors.lastname: Yan
authors.forename: Katie
authors.initials: K
authors.lastname: Noltner
authors.forename: Jinong
authors.initials: J
authors.lastname: Feng
authors.forename: Wenyan
authors.initials: W
authors.lastname: Li
authors.forename: Richard
authors.initials: R
authors.lastname: Schroer
authors.forename: Cindy
authors.initials: C
authors.lastname: Skinner
authors.forename: Wenqi
authors.initials: W
authors.lastname: Zeng
authors.forename: Charles E
authors.initials: CE
authors.lastname: Schwartz
authors.forename: Steve S
authors.initials: SS
authors.lastname: Sommer
mesh_terms: D017398:Alternative Splicing / Q000235:genetics*; D001321:Autistic Disorder / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D009479:Neuropeptides / Q000235:genetics*
chemical_list: D006023:Glycoproteins; D009479:Neuropeptides; C112162:neurexophilin