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

Full 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.

Author information

Author/s: Tomblin, J Bruce (JB); O'Brien, Marlea (M); Shriberg, Lawrence D (LD); Williams, Charles (C); Murray, Jeff (J); Patil, Shivanand (S); Bjork, Jonathan (J); Anderson, Steve (S); Ballard, Kirrie (K);

Affiliation: Department of Speech Pathology and Audiology, University of Iowa, WJSHC, Iowa City, IA, USA. j-tomblin(-atsign-)uiowa.edu

Grants: R01 DC007643 (Agency:NIDCD NIH HHS)

Journal and publication information

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal: Journal of speech, language, and hearing research : JSLHR (J Speech Lang Hear Res), published in United States. (Language: eng)

Reference: 2009-Oct; vol 52 (issue 5) : pp 1157-74

Dates: Created 2009/10/02; Completed 2009/10/30;

PMID: 19797137, status: MEDLINE (last retrieval date: 10/30/2009, IMS Date: )

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