PMID:18179893

Citation	Alarcón, M, Abrahams, BS, Stone, JL, Duvall, JA, Perederiy, JV, Bomar, JM, Sebat, J, Wigler, M, Martin, CL, Ledbetter, DH, Nelson, SF, Cantor, RM and Geschwind, DH (2008) Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am. J. Hum. Genet. 82:150-9
Abstract	Autism is a genetically complex neurodevelopmental syndrome in which language deficits are a core feature. We describe results from two complimentary approaches used to identify risk variants on chromosome 7 that likely contribute to the etiology of autism. A two-stage association study tested 2758 SNPs across a 10 Mb 7q35 language-related autism QTL in AGRE (Autism Genetic Resource Exchange) trios and found significant association with Contactin Associated Protein-Like 2 (CNTNAP2), a strong a priori candidate. Male-only containing families were identified as primarily responsible for this association signal, consistent with the strong male affection bias in ASD and other language-based disorders. Gene-expression analyses in developing human brain further identified CNTNAP2 as enriched in circuits important for language development. Together, these results provide convergent evidence for involvement of CNTNAP2, a Neurexin family member, in autism, and demonstrate a connection between genetic risk for autism and specific brain structures.
Links	PubMed PMC2253955 Online version:10.1016/j.ajhg.2007.09.005
Keywords	Autistic Disorder/genetics; Brain/embryology; Child; Chromosomes, Human, Pair 7; Female; Gene Expression; Genetic Predisposition to Disease; Humans; Language Development; Male; Membrane Proteins/genetics; Nerve Tissue Proteins/genetics; Polymorphism, Single Nucleotide
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Annotations

Gene product	Qualifier	GO Term	Evidence Code	with/from	Aspect	Extension	Notes	Status
HUMAN:CNTP2	involved_in	GO:0007612: learning	ECO:0000315: mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
HUMAN:CNTP2	involved_in	GO:0021756: striatum development	ECO:0000270: expression pattern evidence used in manual assertion		P		Seeded From UniProt	complete
HUMAN:CNTP2	involved_in	GO:0021794: thalamus development	ECO:0000270: expression pattern evidence used in manual assertion		P		Seeded From UniProt	complete
HUMAN:CNTP2	involved_in	GO:0021987: cerebral cortex development	ECO:0000270: expression pattern evidence used in manual assertion		P		Seeded From UniProt	complete
HUMAN:CNTP2	involved_in	GO:0030534: adult behavior	ECO:0000315: mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
HUMAN:CNTP2	involved_in	GO:0035176: social behavior	ECO:0000315: mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
HUMAN:CNTP2	involved_in	GO:0071109: superior temporal gyrus development	ECO:0000270: expression pattern evidence used in manual assertion		P		Seeded From UniProt	complete
HUMAN:CNTP2	involved_in	GO:0071625: vocalization behavior	ECO:0000315: mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete

References

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