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

J Speech Lang Hear Res. 2009 Oct;52(5):1157-74. doi: 10.1044/1092-4388(2009/07-0162).


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.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Base Sequence
  • Chromosomes, Human, Pair 7*
  • Family Health
  • Female
  • Forkhead Transcription Factors / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intelligence Tests
  • Language Development*
  • Language Disorders / genetics*
  • Middle Aged
  • Molecular Sequence Data
  • Mothers
  • Nuclear Family
  • Translocation, Genetic*
  • Vocabulary
  • Young Adult


  • FOXP2 protein, human
  • Forkhead Transcription Factors