期刊
JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH
卷 52, 期 5, 页码 1157-1174出版社
AMER SPEECH-LANGUAGE-HEARING ASSOC
DOI: 10.1044/1092-4388(2009/07-0162)
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资金
- NIDCD NIH HHS [P50 DC002746-10, R01 DC007643, R01 DC007643-04, P50 DC002746] Funding Source: Medline
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.
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