Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2

Impairment of language abilities is a common feature in autistic individuals. Heterozygous mutations in the Forkhead Box P2 (FOXP2) gene lead to a severe spoken language disorder. Recently, several studies have pinpointed the involvement of common variants of the Contactin-Associated Protein-Like 2...

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Detalles Bibliográficos
Autores: Toma, Claudio, Hervás, Amaia, Torrico, Bàrbara, Balmaña, Noemí, Salgado, Marta, Maristany, Marta, Vilella, Elisabet, Martínez-Leal, Rafael, Planelles, M. Inmaculada, Cuscó, Ivon, Campo, Miguel del, Pérez-Jurado, Luis A., Caballero-Andaluz, Rafaela, Diego-Otero, Yolanda de, Pérez-Costillas, Lucía, Ramos-Quiroga, Josep A., Ribasés, Marta, Bayés, Mònica, Cormand, Bru
Tipo de recurso: artículo
Estado:Versión aceptada para publicación
Fecha de publicación:2013
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/376647
Acceso en línea:http://hdl.handle.net/10261/376647
https://api.elsevier.com/content/abstract/scopus_id/84874946486
Access Level:acceso abierto
Palabra clave:Autism
Casecontrol association study
CNTNAP2
FOXP2
Language
Descripción
Sumario:Impairment of language abilities is a common feature in autistic individuals. Heterozygous mutations in the Forkhead Box P2 (FOXP2) gene lead to a severe spoken language disorder. Recently, several studies have pinpointed the involvement of common variants of the Contactin-Associated Protein-Like 2 (CNTNAP2) gene, whose transcription is regulated by the product of FOXP2, in several disorders characterized by language impairments such as autism, specific language impairment (SLI), and selective mutism (SM). In the present study, common variants of the FOXP2 and the CNTNAP2 genes were analyzed through a case-control association study in 322 Spanish autistic patients and 524 controls. The results of this study suggest that common variants of FOXP2 are unlikely to contribute to autism susceptibility, in agreement with previous findings. Furthermore, we failed to replicate in our sample a previous association finding of two single nucleotide polymorphisms (rs2710102 and rs7794745) in the CNTNAP2 gene with autism. No evidence for the association of these genes with language traits was observed in our analysis.

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