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PMID:17034946

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Citation

Feng, J, Schroer, R, Yan, J, Song, W, Yang, C, Bockholt, A, Cook, EH Jr, Skinner, C, Schwartz, CE and Sommer, SS (2006) High frequency of neurexin 1beta signal peptide structural variants in patients with autism. Neurosci. Lett. 409:10-3

Abstract

Neuroligins are postsynaptic membrane cell-adhesion molecules which bind to beta-neurexins, a family of proteins that act as neuronal cell surface receptors. To explore the possibility that structural variants in the beta-neurexin genes predispose to autism, the coding regions and associated splice junctions of three beta-neurexin genes were scanned with detection of virtually all mutations-SSCP (DOVAM-S) in 72 Caucasian patients with autism. In addition, segments of the neurexin 1beta gene were sequenced in 131 additional Caucasian and 61 Afro-American patients with autism from South Carolina and the Midwest. Two putative missense structural variants were identified in the neurexin 1beta gene in four Caucasian patients with autism and not in 535 healthy Caucasian controls (4/203 vs. 0/535, P=0.0056). Initial family data suggest that incomplete penetrance may occur. In addition, no structural variant was found in the neurexin 2beta gene and the neurexin 3beta gene. In the context of all available data, we conclude that mutations of the neurexin 1beta gene may contribute to autism susceptibility.

Links

PubMed Online version:10.1016/j.neulet.2006.08.017

Keywords

Abnormalities, Multiple/genetics; Abnormalities, Multiple/psychology; Autistic Disorder/etiology; Autistic Disorder/genetics; Autistic Disorder/psychology; Case-Control Studies; Child; DNA Transposable Elements/genetics; Exons/genetics; Female; Humans; Male; Mutation, Missense/genetics; Mutation, Missense/physiology; Nerve Tissue Proteins/genetics; Penetrance; Polymorphism, Single-Stranded Conformational; Psychiatric Status Rating Scales; United States/epidemiology

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:NRX1B

involved_in

GO:0071625: vocalization behavior

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:NRX1B

involved_in

GO:0035176: social behavior

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:NRX1B

involved_in

GO:0030534: adult behavior

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:NRX1B

involved_in

GO:0007612: learning

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete


See also

References

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