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

D. F. Newbury; E. Bonora; J. A. Lamb; S. E. Fisher; C. S L Lai; G. Baird; L. Jannoun; V. Slonims; C. M. Stott; M. J. Merricks; P. F. Bolton; A. J. Bailey; Sarah Palferman; Nicola Matthews; Martha Turner; Janette Moore; Amaia Hervas; Anne Aubin; Simon Wallace; Janine Michelotti; Catherine Wainhouse; Alina Paul; Elaine Thompson; Ramyani Gupta; Claire Garner; Marianne Murin; Christine Freitag; Nicola Ryder; Emily Cottington; Jeremy Parr; Greg Pasco; Andrew Pickles; Michael Rutter; Anthony Bailey; Janine A. Lamb; Gabrielle Barnby; Pat Scudder; Elena Bonora; Angela Marlow; Anthony P. Monaco; Gillian Baird; Anthony Cox; Zoe Docherty; Pamela Warburton; Elizabeth P. Green; Stephen J. Abbs; Ann Le Couteur; Helen R. McConachie; Tom Berney; Thomas P. Kelly; Petrus J. De Vries; Emma Gaitonde; Patrick F. Bolton; Jonathan Green; Anne Gilchrist; Jane Whittacker; Bryan Bolton; Ros Packer; Elena Maestrini; Francesca Blasi; Elena Bacchelli; Herman Van Engeland; Maretha V. De Jonge; Chantal Kemner; Judith Timp; Sabine M. Klauck; Kim S. Beyer; Sabine Epp; Annemarie Poustka; Axel Benner; J. W. Goethe; Fritz Poustka; Dorothea Rühl; Gabriele Schmötzer; Sven Bölte; Sabine Feineis-Matthews; Eric Fombonne; Bernadette Rogé; Jeanne Fremolle-Kruck; Catherine Pienkowski; Marie Thérèse Tauber; Lennart Pedersen; Torben Isager; Gunna Eriksen; Demetrious Haracopos; Karen Brondum-Nielsen; Rodney M J Cotterill; John Tsiantis; Katerina Papanikolaou; Catherine Lord; Christina Corsello; Stephen Guter; Bennett Leventhal; Edwin Cook; Susan L. Smalley; Stanley F. Nelson; Amy Liu; Janet Miller

doi:10.1086/339931

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

D. F. Newbury, E. Bonora, J. A. Lamb, S. E. Fisher, C. S L Lai, G. Baird, L. Jannoun, V. Slonims, C. M. Stott, M. J. Merricks, P. F. Bolton, A. J. Bailey, Sarah Palferman, Nicola Matthews, Martha Turner, Janette Moore, Amaia Hervas, Anne Aubin, Simon Wallace, Janine MichelottiCatherine Wainhouse, Alina Paul, Elaine Thompson, Ramyani Gupta, Claire Garner, Marianne Murin, Christine Freitag, Nicola Ryder, Emily Cottington, Jeremy Parr, Greg Pasco, Andrew Pickles, Michael Rutter, Anthony Bailey, Janine A. Lamb, Gabrielle Barnby, Pat Scudder, Elena Bonora, Angela Marlow, Anthony P. Monaco, Gillian Baird, Anthony Cox, Zoe Docherty, Pamela Warburton, Elizabeth P. Green, Stephen J. Abbs, Ann Le Couteur, Helen R. McConachie, Tom Berney, Thomas P. Kelly, Petrus J. De Vries, Emma Gaitonde, Patrick F. Bolton, Jonathan Green, Anne Gilchrist, Jane Whittacker, Bryan Bolton, Ros Packer, Elena Maestrini, Francesca Blasi, Elena Bacchelli, Herman Van Engeland, Maretha V. De Jonge, Chantal Kemner, Judith Timp, Sabine M. Klauck, Kim S. Beyer, Sabine Epp, Annemarie Poustka, Axel Benner, J. W. Goethe, Fritz Poustka, Dorothea Rühl, Gabriele Schmötzer, Sven Bölte, Sabine Feineis-Matthews, Eric Fombonne, Bernadette Rogé, Jeanne Fremolle-Kruck, Catherine Pienkowski, Marie Thérèse Tauber, Lennart Pedersen, Torben Isager, Gunna Eriksen, Demetrious Haracopos, Karen Brondum-Nielsen, Rodney M J Cotterill, John Tsiantis, Katerina Papanikolaou, Catherine Lord, Christina Corsello, Stephen Guter, Bennett Leventhal, Edwin Cook, Susan L. Smalley, Stanley F. Nelson, Amy Liu, Janet Miller

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	1318-1327
Number of pages	9
Journal	American Journal of Human Genetics
Volume	70
Issue number	5
DOIs	https://doi.org/10.1086/339931
Publication status	Published - 2002

Keywords

Alleles
Amino Acid Sequence
Autistic Disorder
Base Sequence
DNA Mutational Analysis
Exons
Female
Forkhead Transcription Factors
Gene Frequency
Genetic Predisposition to Disease
Genetic Screening
genetics
Humans
Introns
Language Disorders
Male
Microsatellite Repeats
Molecular Sequence Data
Pedigree
Polymorphism,Single Nucleotide
Repressor Proteins
Transcription Factors

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10.1086/339931

Cite this

Newbury, D. F., 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., Palferman, S., Matthews, N., Turner, M., Moore, J., Hervas, A., Aubin, A., Wallace, S., ... Miller, J. (2002). FOXP2 is not a major susceptibility gene for autism or specific language impairment. American Journal of Human Genetics, 70(5), 1318-1327. https://doi.org/10.1086/339931

@article{79442e296ec54f8d8db0c9cfb21d73b8,

title = "FOXP2 is not a major susceptibility gene for autism or specific language impairment",

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.",

keywords = "Alleles, Amino Acid Sequence, Autistic Disorder, Base Sequence, DNA Mutational Analysis, Exons, Female, Forkhead Transcription Factors, Gene Frequency, Genetic Predisposition to Disease, Genetic Screening, genetics, Humans, Introns, Language Disorders, Male, Microsatellite Repeats, Molecular Sequence Data, Pedigree, Polymorphism,Single Nucleotide, Repressor Proteins, Transcription Factors",

author = "Newbury, {D. F.} and E. Bonora and Lamb, {J. A.} and Fisher, {S. E.} and Lai, {C. S L} and G. Baird and L. Jannoun and V. Slonims and Stott, {C. M.} and Merricks, {M. J.} and Bolton, {P. F.} and Bailey, {A. J.} and Sarah Palferman and Nicola Matthews and Martha Turner and Janette Moore and Amaia Hervas and Anne Aubin and Simon Wallace and Janine Michelotti and Catherine Wainhouse and Alina Paul and Elaine Thompson and Ramyani Gupta and Claire Garner and Marianne Murin and Christine Freitag and Nicola Ryder and Emily Cottington and Jeremy Parr and Greg Pasco and Andrew Pickles and Michael Rutter and Anthony Bailey and Lamb, {Janine A.} and Gabrielle Barnby and Pat Scudder and Elena Bonora and Angela Marlow and Monaco, {Anthony P.} and Gillian Baird and Anthony Cox and Zoe Docherty and Pamela Warburton and Green, {Elizabeth P.} and Abbs, {Stephen J.} and {Le Couteur}, Ann and McConachie, {Helen R.} and Tom Berney and Kelly, {Thomas P.} and {De Vries}, {Petrus J.} and Emma Gaitonde and Bolton, {Patrick F.} and Jonathan Green and Anne Gilchrist and Jane Whittacker and Bryan Bolton and Ros Packer and Elena Maestrini and Francesca Blasi and Elena Bacchelli and {Van Engeland}, Herman and {De Jonge}, {Maretha V.} and Chantal Kemner and Judith Timp and Klauck, {Sabine M.} and Beyer, {Kim S.} and Sabine Epp and Annemarie Poustka and Axel Benner and Goethe, {J. W.} and Fritz Poustka and Dorothea R{\"u}hl and Gabriele Schm{\"o}tzer and Sven B{\"o}lte and Sabine Feineis-Matthews and Eric Fombonne and Bernadette Rog{\'e} and Jeanne Fremolle-Kruck and Catherine Pienkowski and Tauber, {Marie Th{\'e}r{\`e}se} and Lennart Pedersen and Torben Isager and Gunna Eriksen and Demetrious Haracopos and Karen Brondum-Nielsen and Cotterill, {Rodney M J} and John Tsiantis and Katerina Papanikolaou and Catherine Lord and Christina Corsello and Stephen Guter and Bennett Leventhal and Edwin Cook and Smalley, {Susan L.} and Nelson, {Stanley F.} and Amy Liu and Janet Miller",

year = "2002",

doi = "10.1086/339931",

language = "English",

volume = "70",

pages = "1318--1327",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "5",

}

Newbury, DF, Bonora, E, Lamb, JA, Fisher, SE, Lai, CSL, Baird, G, Jannoun, L, Slonims, V, Stott, CM, Merricks, MJ, Bolton, PF, Bailey, AJ, Palferman, S, Matthews, N, Turner, M, Moore, J, Hervas, A, Aubin, A, Wallace, S, Michelotti, J, Wainhouse, C, Paul, A, Thompson, E, Gupta, R, Garner, C, Murin, M, Freitag, C, Ryder, N, Cottington, E, Parr, J, Pasco, G, Pickles, A, Rutter, M, Bailey, A, Lamb, JA, Barnby, G, Scudder, P, Bonora, E, Marlow, A, Monaco, AP, Baird, G, Cox, A, Docherty, Z, Warburton, P, Green, EP, Abbs, SJ, Le Couteur, A, McConachie, HR, Berney, T, Kelly, TP, De Vries, PJ, Gaitonde, E, Bolton, PF, Green, J, Gilchrist, A, Whittacker, J, Bolton, B, Packer, R, Maestrini, E, Blasi, F, Bacchelli, E, Van Engeland, H, De Jonge, MV, Kemner, C, Timp, J, Klauck, SM, Beyer, KS, Epp, S, Poustka, A, Benner, A, Goethe, JW, Poustka, F, Rühl, D, Schmötzer, G, Bölte, S, Feineis-Matthews, S, Fombonne, E, Rogé, B, Fremolle-Kruck, J, Pienkowski, C, Tauber, MT, Pedersen, L, Isager, T, Eriksen, G, Haracopos, D, Brondum-Nielsen, K, Cotterill, RMJ, Tsiantis, J, Papanikolaou, K, Lord, C, Corsello, C, Guter, S, Leventhal, B, Cook, E, Smalley, SL, Nelson, SF, Liu, A & Miller, J 2002, 'FOXP2 is not a major susceptibility gene for autism or specific language impairment', American Journal of Human Genetics, vol. 70, no. 5, pp. 1318-1327. https://doi.org/10.1086/339931

TY - JOUR

T1 - FOXP2 is not a major susceptibility gene for autism or specific language impairment

AU - Newbury, D. F.

AU - Bonora, E.

AU - Lamb, J. A.

AU - Fisher, S. E.

AU - Lai, C. S L

AU - Baird, G.

AU - Jannoun, L.

AU - Slonims, V.

AU - Stott, C. M.

AU - Merricks, M. J.

AU - Bolton, P. F.

AU - Bailey, A. J.

AU - Palferman, Sarah

AU - Matthews, Nicola

AU - Turner, Martha

AU - Moore, Janette

AU - Hervas, Amaia

AU - Aubin, Anne

AU - Wallace, Simon

AU - Michelotti, Janine

AU - Wainhouse, Catherine

AU - Paul, Alina

AU - Thompson, Elaine

AU - Gupta, Ramyani

AU - Garner, Claire

AU - Murin, Marianne

AU - Freitag, Christine

AU - Ryder, Nicola

AU - Cottington, Emily

AU - Parr, Jeremy

AU - Pasco, Greg

AU - Pickles, Andrew

AU - Rutter, Michael

AU - Bailey, Anthony

AU - Lamb, Janine A.

AU - Barnby, Gabrielle

AU - Scudder, Pat

AU - Bonora, Elena

AU - Marlow, Angela

AU - Monaco, Anthony P.

AU - Baird, Gillian

AU - Cox, Anthony

AU - Docherty, Zoe

AU - Warburton, Pamela

AU - Green, Elizabeth P.

AU - Abbs, Stephen J.

AU - Le Couteur, Ann

AU - McConachie, Helen R.

AU - Berney, Tom

AU - Kelly, Thomas P.

AU - De Vries, Petrus J.

AU - Gaitonde, Emma

AU - Bolton, Patrick F.

AU - Green, Jonathan

AU - Gilchrist, Anne

AU - Whittacker, Jane

AU - Bolton, Bryan

AU - Packer, Ros

AU - Maestrini, Elena

AU - Blasi, Francesca

AU - Bacchelli, Elena

AU - Van Engeland, Herman

AU - De Jonge, Maretha V.

AU - Kemner, Chantal

AU - Timp, Judith

AU - Klauck, Sabine M.

AU - Beyer, Kim S.

AU - Epp, Sabine

AU - Poustka, Annemarie

AU - Benner, Axel

AU - Goethe, J. W.

AU - Poustka, Fritz

AU - Rühl, Dorothea

AU - Schmötzer, Gabriele

AU - Bölte, Sven

AU - Feineis-Matthews, Sabine

AU - Fombonne, Eric

AU - Rogé, Bernadette

AU - Fremolle-Kruck, Jeanne

AU - Pienkowski, Catherine

AU - Tauber, Marie Thérèse

AU - Pedersen, Lennart

AU - Isager, Torben

AU - Eriksen, Gunna

AU - Haracopos, Demetrious

AU - Brondum-Nielsen, Karen

AU - Cotterill, Rodney M J

AU - Tsiantis, John

AU - Papanikolaou, Katerina

AU - Lord, Catherine

AU - Corsello, Christina

AU - Guter, Stephen

AU - Leventhal, Bennett

AU - Cook, Edwin

AU - Smalley, Susan L.

AU - Nelson, Stanley F.

AU - Liu, Amy

AU - Miller, Janet

PY - 2002

Y1 - 2002

N2 - 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.

AB - 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.

KW - Alleles

KW - Amino Acid Sequence

KW - Autistic Disorder

KW - Base Sequence

KW - DNA Mutational Analysis

KW - Exons

KW - Female

KW - Forkhead Transcription Factors

KW - Gene Frequency

KW - Genetic Predisposition to Disease

KW - Genetic Screening

KW - genetics

KW - Humans

KW - Introns

KW - Language Disorders

KW - Male

KW - Microsatellite Repeats

KW - Molecular Sequence Data

KW - Pedigree

KW - Polymorphism,Single Nucleotide

KW - Repressor Proteins

KW - Transcription Factors

U2 - 10.1086/339931

DO - 10.1086/339931

M3 - Article

SN - 0002-9297

VL - 70

SP - 1318

EP - 1327

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 5

ER -

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

Abstract

Keywords

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