Yan Jin, Noltner Katie, Feng Jinong, Li Wenyan, Schroer Richard, Skinner Cindy, Zeng Wenqi, Schwartz Charles E, Sommer Steve S
Department of Molecular Genetics, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010-3000, USA.
Neurosci Lett. 2008 Jun 27;438(3):368-70. doi: 10.1016/j.neulet.2008.04.074. Epub 2008 Apr 25.
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.
神经连接蛋白是突触前膜细胞粘附分子，可与神经配蛋白结合，神经配蛋白是一类与自闭症相关的蛋白质家族。为了探究神经连接蛋白α基因中的结构变异是否易患自闭症，对116名患有自闭症的白种人患者和192名白种人对照者的神经连接蛋白1α基因的编码区及相关剪接位点进行了测序。在自闭症患者中发现了5种超罕见的结构变异，包括一个预测的剪接突变，而在10000个对照等位基因中未发现。在对照者中仅发现1种超罕见的结构变异（5/116 vs. 1/192；P=０.03，Fisher精确检验，单侧）。结合所有现有数据来看，神经连接蛋白1α基因的超罕见结构变异与易患自闭症的突变一致。
