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

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.