Language features in a mother and daughter of a chromosome 7;13 translocation involving FOXP2

J. Bruce Tomblin; Marlea O'Brien; Larry Shriberg; Charles Williams; Jeff Murray; Shivanand Patil; Jonathan Bjork; Steve Anderson; Kirrie Ballard

doi:10.1044/1092-4388(2009/07-0162)

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Language features in a mother and daughter of a chromosome 7;13 translocation involving FOXP2

Journal article

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Language features in a mother and daughter of a chromosome 7;13 translocation involving FOXP2

J. Bruce Tomblin, Marlea O'Brien, Larry Shriberg, Charles Williams, Jeff Murray, Shivanand Patil, Jonathan Bjork, Steve Anderson and Kirrie Ballard

Journal of speech, language, and hearing research, Vol.52(5), pp.1157-1174

10/2009

DOI: 10.1044/1092-4388(2009/07-0162)

PMCID: PMC2760059

PMID: 19797137

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Abstract

Purpose The aims of this study were (a) to locate the breakpoints of a balanced translocation (7;13) within a mother (B) and daughter (T); (b) to describe the language and cognitive skills of B and T; and (c) to compare this profile with affected family members of the KE family who have a mutation within FOXP2. Method The breakpoint locations for T and B were identified by use of fluorescent in situ hybridization analysis followed by DNA sequencing using long-range polymer chain reaction amplification methods. The cognitive and language characteristics were obtained via the use of standardized tests of intelligence, receptive and expressive vocabulary and sentence use, and a spontaneous language sample. Results The translocation breakpoints in T and B were found in FOXP2 on chromosome 7 and in RFC3 on chromosome 13. T and B’s pattern of relative strengths and weaknesses across their cognitive and language performance was found to be similar to descriptions of the affected KE family members. Conclusions Prior reports of individuals with chromosomal rearrangements of FOXP2 have emphasized their speech impairment. This study provides additional evidence that language—in particular, grammar—is likely to be influenced by abnormalities of FOXP2 function.

Language Disorder

Balanced Translocation

FOXP2

Details

Title: Subtitle: Language features in a mother and daughter of a chromosome 7;13 translocation involving FOXP2
Creators: J. Bruce Tomblin - Department of Speech Pathology and Audiology, University of Iowa, Iowa City, Iowa
Marlea O'Brien - Department of Speech Pathology and Audiology, University of Iowa, Iowa City, Iowa
Larry Shriberg - Waisman Center, University of Wisconsin, Madison, Wisconsin
Charles Williams - Department of Pediatrics, University of Florida, Gainesville, Florida
Jeff Murray - Department of Pediatrics, University of Iowa, Iowa City, Iowa
Shivanand Patil - Department of Pediatrics, University of Iowa, Iowa City, Iowa
Jonathan Bjork - Department of Pediatrics, University of Iowa, Iowa City, Iowa
Steve Anderson - Department of Neurology, University of Iowa, Iowa City, Iowa
Kirrie Ballard - Department of Speech Pathology, University of Sidney, Sidney, Australia
Resource Type: Journal article
Publication Details: Journal of speech, language, and hearing research, Vol.52(5), pp.1157-1174
DOI: 10.1044/1092-4388(2009/07-0162)
PMID: 19797137
PMCID: PMC2760059
NLM abbreviation: J Speech Lang Hear Res
ISSN: 1092-4388
eISSN: 1558-9102
Language: English
Date published: 10/2009
Academic Unit: Neurology; 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
Record Identifier: 9984013920402771

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