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PMID: 11894222 Published · ppublish English Journal Article

FOXP2 is not a major susceptibility gene for autism or specific language impairment.

American journal of human genetics ·Vol. 70 ·No. 5 ·2002-05-00 ·Pages 1318-27

Newbury DF, Bonora E, Lamb JA, Fisher SE, Lai CS, Baird G, Jannoun L, Slonims V, Stott CM, Merricks MJ, Bolton PF, Bailey AJ, Monaco AP, International Molecular Genetic Study of Autism Consortium

Abstract

The FOXP2 gene, located on human 7q31 (at the SPCH1 locus), encodes a transcription factor containing a polyglutamine tract and a forkhead domain. FOXP2 is mutated in a severe monogenic form of speech and language impairment, segregating within a single large pedigree, and is also disrupted by a translocation in an isolated case. Several studies of autistic disorder have demonstrated linkage to a similar region of 7q (the AUTS1 locus), leading to the proposal that a single genetic factor on 7q31 contributes to both autism and language disorders. In the present study, we directly evaluate the impact of the FOXP2 gene with regard to both complex language impairments and autism, through use of association and mutation screening analyses. We conclude that coding-region variants in FOXP2 do not underlie the AUTS1 linkage and that the gene is unlikely to play a role in autism or more common forms of language impairment.

MeSH Terms
Alleles Amino Acid Sequence Autistic Disorder/genetics Base Sequence DNA Mutational Analysis Exons/genetics Female Forkhead Transcription Factors Gene Frequency Genetic Predisposition to Disease/genetics Genetic Testing Humans Introns/genetics Language Disorders/genetics Male Microsatellite Repeats/genetics Molecular Sequence Data Pedigree Polymorphism, Single Nucleotide/genetics Repressor Proteins/genetics Transcription Factors
Chemicals
FOXP2 protein, human Forkhead Transcription Factors Repressor Proteins Transcription Factors
Authors & Affiliations
14 authors, click to expand affiliations / ORCID
Newbury D F
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom. anthony.monaco@well.ox.ac.uk
Bonora E
Lamb J A
Fisher S E
Lai C S L
Baird G
Jannoun L
Slonims V
Stott C M
Merricks M J
Bolton P F
Bailey A J
Monaco A P
International Molecular Genetic Study of Autism Consortium
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
DOI
10.1086/339931
Email
anthony.monaco@well.ox.ac.uk
Published
2002-05-00
Epub
2002-00-13
Pages
1318-27
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC447606
Subset
IM
Grants
NCRR NIH HHS · M01 RR006022 · United States
NICHD NIH HHS · P01 HD035482 · United States
Databases
OMIM
209850, 602081, 605317
External Links
PubMed source DOI: 10.1086/339931 PMC Full Text View journal details
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