Institutional members access full text with Ovid®

Share this article on:

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

Toma, Claudioa,j; Hervás, Amaiak; Torrico, Bàrbaraa,j; Balmaña, Noemík; Salgado, Martaj,k; Maristany, Martab; Vilella, Elisabetl; Martínez-Leal, Rafaelm; Planelles, Ma Inmaculadam; Cuscó, Ivonc,j; del Campo, Miguelc,d,j; Pérez-Jurado, Luis A.c,j; Caballero-Andaluz, Rafaelan; de Diego-Otero, Yolandao; Pérez-Costillas, Lucíao,p; Ramos-Quiroga, Josep A.e,f,g,q; Ribasés, Martae,g,q; Bayés, Mònicah; Cormand, Brua,i,j

doi: 10.1097/YPG.0b013e32835d6fc6
Brief Reports

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.

aDepartment of Genetics, Faculty of Biology, University of Barcelona

bDevelopmental Disorders Unit (UETD), Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona

cGenetics Unit, University Pompeu Fabra, Barcelona

dMolecular Medicine and Genetics Program, Hospital Universitari Vall d'hebron, Barcelona

eDepartment of Psychiatry, Hospital Universitari Vall d'Hebron, Barcelona

fDepartment of Psychiatry and Legal Medicine, Universitat Autònoma de Barcelona

gPsychiatric Genetics Unit, Vall d’Hebron Research Institute (VHIR), Barcelona

hNational Centre for Genomic Analysis (CNAG), Barcelona Science Park (PCB)

iInstitute of Biomedicine, University of Barcelona (IBUB), Barcelona

jCentre for Biomedical Network Research on Rare Diseases (CIBERER), Valencia, Barcelona

kChild and Adolescent Mental Health Unit, University Hospital Mútua de Terrassa, Barcelona

lHospital Universitari Institut Pere Mata IISPV, Universitat Rovira i Virgili, Reus

mIntellectual Disabilities and Developmental Disorders Research Unit (UNIVIDD), Villablanca Foundation, IISPV, University Rovira i Virgili, Reus

nAutism Unit, Department of Psychiatry, University of Seville

oUGC Mental Health, University Hospital Carlos Haya, Research Laboratory, IBIMA Institute, IMABIS Foundation, Málaga

pPsychiatry Department, University of Málaga

qCentre for Biomedical Network Research on Mental Health (CIBERSAM), Barcelona, Spain

Correspondence to Bru Cormand, PhD, Department of Genetics, Faculty of Biology, University of Barcelona, Av. Diagonal 643, Prevosti Building, 3rd floor, Barcelona 08028, Spain Tel: +34 93 402 1013; fax: +34 93 403 4420; e-mail:

Received February 19, 2012

Accepted July 25, 2012

© 2013 Lippincott Williams & Wilkins, Inc.