Association of Specific Language Impairment (SLI) to the Region of 7q31

Erin K O’Brien; Xuyang Zhang; Carla Nishimura; J. Bruce Tomblin; Jeffrey C Murray

doi:10.1086/375403

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Association of Specific Language Impairment (SLI) to the Region of 7q31

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Association of Specific Language Impairment (SLI) to the Region of 7q31

Erin K O’Brien, Xuyang Zhang, Carla Nishimura, J. Bruce Tomblin and Jeffrey C Murray

American journal of human genetics, Vol.72(6), pp.1536-1543

06/2003

DOI: 10.1086/375403

PMCID: PMC1180313

PMID: 12721956

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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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Title: Subtitle: Association of Specific Language Impairment (SLI) to the Region of 7q31
Creators: Erin K O’Brien - Departments of
Xuyang Zhang - Departments of
Carla Nishimura - Departments of
J. Bruce Tomblin - Departments of
Jeffrey C Murray - Departments of
Resource Type: Journal article
Publication Details: American journal of human genetics, Vol.72(6), pp.1536-1543
DOI: 10.1086/375403
PMID: 12721956
PMCID: PMC1180313
NLM abbreviation: Am J Hum Genet
ISSN: 0002-9297
eISSN: 1537-6605
Publisher: The American Society of Human Genetics
Alternative title: Association of SLI to 7q31
Language: English
Date published: 06/2003
Academic Unit: Communication Sciences and Disorders; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Iowa Neuroscience Institute; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research; Otolaryngology
Record Identifier: 9984025341602771

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