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


METHODS
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.
Tomblin
J Bruce
JB
Department of Speech Pathology and Audiology, University of Iowa, WJSHC, Iowa City, IA, USA. j-tomblin@uiowa.edu
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
D001483:Base Sequence; D002897:Chromosomes, Human, Pair 7; D005192:Family Health; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007361:Intelligence Tests; D007804:Language Development; D007806:Language Disorders / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D009035:Mothers; D009679:Nuclear Family; D014178:Translocation, Genetic; D014825:Vocabulary; D055815:Young Adult
C465448:FOXP2 protein, human; D051858:Forkhead Transcription Factors