Neurexin 1alpha structural variants associated with autism.
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.
Yan
Jin
J
Department of Molecular Genetics, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010-3000, USA.
Noltner
Katie
K
Feng
Jinong
J
Li
Wenyan
W
Schroer
Richard
R
Skinner
Cindy
C
Zeng
Wenqi
W
Schwartz
Charles E
CE
Sommer
Steve S
SS
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*
D006023:Glycoproteins; D009479:Neuropeptides; C112162:neurexophilin