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PMID:18179893

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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

Significance

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


See also

References

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