Language Features in a Mother and Daughter of a Chromosome 7;13 Translocation Involving FOXP2 PurposeThe 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 ... Article
Article  |   October 01, 2009
Language Features in a Mother and Daughter of a Chromosome 7;13 Translocation Involving FOXP2
 
Author Affiliations & Notes
  • J. Bruce Tomblin
    University of Iowa, Iowa City
  • Marlea O’Brien
    University of Iowa, Iowa City
  • Lawrence D. Shriberg
    Waisman Center, University of Wisconsin, Madison
  • Charles Williams
    University of Florida, Gainesville
  • Jeff Murray
    University of Iowa
  • Shivanand Patil
    University of Iowa
  • 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@uiowa.edu.
Article Information
Special Populations / Genetic & Congenital Disorders / Language
Article   |   October 01, 2009
Language Features in a Mother and Daughter of a Chromosome 7;13 Translocation Involving FOXP2
Journal of Speech, Language, and Hearing Research, October 2009, Vol. 52, 1157-1174. doi:10.1044/1092-4388(2009/07-0162)
History: Received July 9, 2007 , Accepted January 17, 2009
 
Journal of Speech, Language, and Hearing Research, October 2009, Vol. 52, 1157-1174. doi:10.1044/1092-4388(2009/07-0162)
History: Received July 9, 2007; Accepted January 17, 2009

PurposeThe 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.

MethodThe 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.

ResultsThe 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.

ConclusionsPrior 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.

Acknowledgments
This research was supported by National Institute on Deafness and Other Communication Disorders Grant R01 DC007643. We thank Connie Ferguson for her able assistance in data collection.
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