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Language Features in a Mother and Daughter of a Chromosome 7;13 Translocation Involving FOXP2

Lawrence D. Shriberg
Waisman Center, University of Wisconsin, Madison

Charles Williams
University of Florida, Gainesville

Jeff Murray
Shivanand Patil
Jonathan Bjork
University of Iowa

Steve Anderson
University of Iowa

Kirrie Ballard
University of Sydney, Sydney, Australia

Contact author: J. Bruce Tomblin, Department of Speech Pathology and Audiology, University of Iowa, WJSHC, Iowa City, IA 52245. E-mail: j-tomblin{at}uiowa.edu.

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.

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