Copyright © 2003 The American Society of Human Genetics. All rights reserved.
The American Journal of Human Genetics, Volume 72, Issue 6, 1536-1543, 1 June 2003
doi:10.1086/375403
Report
Association of Specific Language Impairment (SLI) to the Region of 7q31
Erin K. O’Brien1, Xuyang Zhang2, Carla Nishimura3, J. Bruce Tomblin2, * and Jeffrey C. Murray3, *, 
, 
1 Department of Otolaryngology, University of Iowa, Iowa City
2 Department of Speech Pathology and Audiology, University of Iowa, Iowa City
3 Department of Pediatrics, University of Iowa, Iowa City
Address for correspondence and reprints: Dr. Jeffrey C. Murray, 2182 Med Labs, Iowa City, IA 52242* These authors contributed equally to this work.
Abstract
FOXP2 (forkhead box P2) was the first gene characterized in which a mutation affects human speech and language abilities. A common developmental language disorder, specific language impairment (SLI), affects 6%–7% of children with normal nonverbal intelligence and has evidence of a genetic basis in familial and twin studies. FOXP2 is located on chromosome 7q31, and studies of other disorders with speech and language impairment, including autism, have found linkage to this region. In the present study, samples from children with SLI and their family members were used to study linkage and association of SLI to markers within and around FOXP2, and samples from 96 probands with SLI were directly sequenced for the mutation in exon 14 of FOXP2. No mutations were found in exon 14 of FOXP2, but strong association was found to a marker within the CFTR gene and another marker on 7q31, D7S3052, both adjacent to FOXP2, suggesting that genetic factors for regulation of common language impairment reside in the vicinity of FOXP2.
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