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

Claudio Toma, Amaia Hervás, Bàrbara Torrico, Noemí Balmaña, Marta Salgado, Marta Maristany, Elisabet Vilella, Rafael Martínez-Leal, Ma Inmaculada Planelles, Ivon Cuscó, Miguel Del Campo, Luis A. Pérez-Jurado, Rafaela Caballero-Andaluz, Yolanda De Diego-Otero, Lucía Pérez-Costillas, Josep A. Ramos-Quiroga, Marta Ribasés, Mònica Bayés, Bru Cormand

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40 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)82-85
Number of pages4
JournalPsychiatric Genetics
Issue number2
Publication statusPublished or Issued - Apr 2013
Externally publishedYes


  • FOXP2
  • autism
  • casecontrol association study
  • language

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Psychiatry and Mental health
  • Biological Psychiatry

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