Functional genetic analysis of mutations implicated in a human speech and language disorder.

Journal article

Mutations in the FOXP2 gene cause a severe communication disorder involving speech deficits (developmental verbal dyspraxia), accompanied by wide-ranging impairments in expressive and receptive language. The protein encoded by FOXP2 belongs to a divergent subgroup of forkhead-box transcription factors, with a distinctive DNA-binding domain and motifs that mediate hetero- and homodimerization. Here we report the first direct functional genetic investigation of missense and nonsense mutations i...

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Authors: Vernes, S; Nicod, J; Elahi, F; Coventry, J; Kenny, N

• Publication status: Published
• Journal: Human molecular genetics
• Volume: 15
• Issue: 21
• Pages: 3154-3167
• Publication date: 2006-11-01
• DOI: 10.1093/hmg/ddl392
• EISSN: 1460-2083
• ISSN: 0964-6906
• Language: English
• Keywords: Mutagenesis, Site-Directed; Alternative Splicing; Protein Structure, Tertiary; Cell Nucleus; Forkhead Transcription Factors; Brain; Humans; DNA-Binding Proteins; Protein Isoforms; Transcriptional Activation; Molecular Sequence Data; Transfection; Point Mutation; Mutation, Missense; Cell Line; Codon, Nonsense; Amino Acid Sequence; Recombinant Proteins; Apraxias; Language Development Disorders