FOXP2 is not a major susceptibility gene for autism or specific language impairment.
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 tra...
| Main Authors: | , , , , , , , , , , , , |
|---|---|
| Format: | Journal article |
| Language: | English |
| Published: |
2002
|
| _version_ | 1797099568711598080 |
|---|---|
| author | Newbury, D Bonora, E Lamb, J Fisher, S Lai, C Baird, G Jannoun, L Slonims, V Stott, C Merricks, M Bolton, P Bailey, A Monaco, A |
| author_facet | Newbury, D Bonora, E Lamb, J Fisher, S Lai, C Baird, G Jannoun, L Slonims, V Stott, C Merricks, M Bolton, P Bailey, A Monaco, A |
| author_sort | Newbury, D |
| collection | OXFORD |
| description | 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. |
| first_indexed | 2024-03-07T05:25:39Z |
| format | Journal article |
| id | oxford-uuid:e074daca-a098-4a07-af99-722163cd26e2 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T05:25:39Z |
| publishDate | 2002 |
| record_format | dspace |
| spelling | oxford-uuid:e074daca-a098-4a07-af99-722163cd26e22022-03-27T09:47:27ZFOXP2 is not a major susceptibility gene for autism or specific language impairment.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:e074daca-a098-4a07-af99-722163cd26e2EnglishSymplectic Elements at Oxford2002Newbury, DBonora, ELamb, JFisher, SLai, CBaird, GJannoun, LSlonims, VStott, CMerricks, MBolton, PBailey, AMonaco, AThe 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. |
| spellingShingle | Newbury, D Bonora, E Lamb, J Fisher, S Lai, C Baird, G Jannoun, L Slonims, V Stott, C Merricks, M Bolton, P Bailey, A Monaco, A FOXP2 is not a major susceptibility gene for autism or specific language impairment. |
| title | FOXP2 is not a major susceptibility gene for autism or specific language impairment. |
| title_full | FOXP2 is not a major susceptibility gene for autism or specific language impairment. |
| title_fullStr | FOXP2 is not a major susceptibility gene for autism or specific language impairment. |
| title_full_unstemmed | FOXP2 is not a major susceptibility gene for autism or specific language impairment. |
| title_short | FOXP2 is not a major susceptibility gene for autism or specific language impairment. |
| title_sort | foxp2 is not a major susceptibility gene for autism or specific language impairment |
| work_keys_str_mv | AT newburyd foxp2isnotamajorsusceptibilitygeneforautismorspecificlanguageimpairment AT bonorae foxp2isnotamajorsusceptibilitygeneforautismorspecificlanguageimpairment AT lambj foxp2isnotamajorsusceptibilitygeneforautismorspecificlanguageimpairment AT fishers foxp2isnotamajorsusceptibilitygeneforautismorspecificlanguageimpairment AT laic foxp2isnotamajorsusceptibilitygeneforautismorspecificlanguageimpairment AT bairdg foxp2isnotamajorsusceptibilitygeneforautismorspecificlanguageimpairment AT jannounl foxp2isnotamajorsusceptibilitygeneforautismorspecificlanguageimpairment AT slonimsv foxp2isnotamajorsusceptibilitygeneforautismorspecificlanguageimpairment AT stottc foxp2isnotamajorsusceptibilitygeneforautismorspecificlanguageimpairment AT merricksm foxp2isnotamajorsusceptibilitygeneforautismorspecificlanguageimpairment AT boltonp foxp2isnotamajorsusceptibilitygeneforautismorspecificlanguageimpairment AT baileya foxp2isnotamajorsusceptibilitygeneforautismorspecificlanguageimpairment AT monacoa foxp2isnotamajorsusceptibilitygeneforautismorspecificlanguageimpairment |