Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q

Sarah Palferman; Nicola Matthews; Martha Turner; Janette Moore; Amaia Hervas; Anne Aubin; Simon Wallace; Janine Michelotti; Catherine Wainhouse; Alina Paul; Elaine Thompson; Marianne Murin; Ramyani Gupta; Claire Garner; Andrew Pickles; Michael Rutter; Anthony Bailey; Janine Lamb; Angela Marlow; Pat Scudder; Gabrielle Barnby; 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; Patrick F. Bolton; Jonathan Green; Anne Gilchrist; Jane Whittacker; Bryan Bolton; Ros Packer; Elena Maestrini; Herman Van Engeland; Maretha V. De Jonge; Chantal Kemner; Sabine M. Klauck; Kim S. Beyer; Sabine Epp; Annemarie Poustka; Axel Benner; 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; Karen Brondum-Nielsen; Gunna Eriksen; Demetrious Haracopos; Rodney M J Cotterill; John Tsiantis; Katerina Papanikolaou; Catherine Lord; Christina Corsello; Stephen Guter; Bennett Leventhal; Edwin Cook; Susan Smalley; Julia Bailey; Amy Liu; Martha Dedricks; Lisa Chrzanowski; Jennifer Levitt; David Pauls; Fred Volkmar; Daniel E. Weeks

doi:10.1093/hmg/10.9.973

Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q

Sarah Palferman, Nicola Matthews, Martha Turner, Janette Moore, Amaia Hervas, Anne Aubin, Simon Wallace, Janine Michelotti, Catherine Wainhouse, Alina Paul, Elaine Thompson, Marianne Murin, Ramyani Gupta, Claire Garner, Andrew Pickles, Michael Rutter, Anthony Bailey, Janine Lamb, Angela Marlow, Pat ScudderGabrielle Barnby, 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, Patrick F. Bolton, Jonathan Green, Anne Gilchrist, Jane Whittacker, Bryan Bolton, Ros Packer, Elena Maestrini, Herman Van Engeland, Maretha V. De Jonge, Chantal Kemner, Sabine M. Klauck, Kim S. Beyer, Sabine Epp, Annemarie Poustka, Axel Benner, 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, Karen Brondum-Nielsen, Gunna Eriksen, Demetrious Haracopos, Rodney M J Cotterill, John Tsiantis, Katerina Papanikolaou, Catherine Lord, Christina Corsello, Stephen Guter, Bennett Leventhal, Edwin Cook, Susan Smalley, Julia Bailey, Amy Liu, Martha Dedricks, Lisa Chrzanowski, Jennifer Levitt, David Pauls, Fred Volkmar, Daniel E. Weeks

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

Abstract

Autism is a neurodevelopmental disorder that usually arises on the basis of a complex genetic predisposition. The most significant susceptibility region in the first whole genome screen of multiplex families was on chromosome 7q, although this linkage was evident only in UK IMGSAC families. Subsequently all other genome screens of non-UK families have found some evidence of increased allele sharing in an overlapping 40 cM region of 7q. To further characterize this susceptibility locus, linkage analysis has now been completed on 170 multiplex IMGSAC families. Using a 5 cM marker grid, analysis of 125 sib pairs meeting stringent inclusion criteria resulted in a multipoint maximum LOD score (MLS) of 2.15 at D7S477, whereas analysis of all 153 sib pairs generated an MLS of 3.37. The 71 non-UK sib pairs now contribute to this linkage. Linkage disequilibrium mapping identified two regions of association-one lying under the peak of linkage, the other some 27 cM distal. These results are supported in part by findings in independent German and American singleton families.

Original language	English
Pages (from-to)	973-982
Number of pages	9
Journal	Human Molecular Genetics
Volume	10
Issue number	9
DOIs	https://doi.org/10.1093/hmg/10.9.973
Publication status	Published - 15 Apr 2001

Keywords

Alleles
analysis
Autistic Disorder
Chromosome Mapping
Chromosomes,Human
Chromosomes,Human,Pair 7
Disease Susceptibility
Female
Genetic Markers
genetics
Genome
Genotype
Human
Linkage (Genetics)
Linkage Disequilibrium
Lod Score
Male
Polymerase Chain Reaction
Support,Non-U.S.Gov't
Support,U.S.Gov't,P.H.S.

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10.1093/hmg/10.9.973

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Palferman, S., Matthews, N., Turner, M., Moore, J., Hervas, A., Aubin, A., Wallace, S., Michelotti, J., Wainhouse, C., Paul, A., Thompson, E., Murin, M., Gupta, R., Garner, C., Pickles, A., Rutter, M., Bailey, A., Lamb, J., Marlow, A., ... Weeks, D. E. (2001). Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q. Human Molecular Genetics, 10(9), 973-982. https://doi.org/10.1093/hmg/10.9.973

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title = "Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q",

abstract = "Autism is a neurodevelopmental disorder that usually arises on the basis of a complex genetic predisposition. The most significant susceptibility region in the first whole genome screen of multiplex families was on chromosome 7q, although this linkage was evident only in UK IMGSAC families. Subsequently all other genome screens of non-UK families have found some evidence of increased allele sharing in an overlapping 40 cM region of 7q. To further characterize this susceptibility locus, linkage analysis has now been completed on 170 multiplex IMGSAC families. Using a 5 cM marker grid, analysis of 125 sib pairs meeting stringent inclusion criteria resulted in a multipoint maximum LOD score (MLS) of 2.15 at D7S477, whereas analysis of all 153 sib pairs generated an MLS of 3.37. The 71 non-UK sib pairs now contribute to this linkage. Linkage disequilibrium mapping identified two regions of association-one lying under the peak of linkage, the other some 27 cM distal. These results are supported in part by findings in independent German and American singleton families.",

keywords = "Alleles, analysis, Autistic Disorder, Chromosome Mapping, Chromosomes,Human, Chromosomes,Human,Pair 7, Disease Susceptibility, Female, Genetic Markers, genetics, Genome, Genotype, Human, Linkage (Genetics), Linkage Disequilibrium, Lod Score, Male, Polymerase Chain Reaction, Support,Non-U.S.Gov't, Support,U.S.Gov't,P.H.S.",

author = "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 Marianne Murin and Ramyani Gupta and Claire Garner and Andrew Pickles and Michael Rutter and Anthony Bailey and Janine Lamb and Angela Marlow and Pat Scudder and Gabrielle Barnby 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 Bolton, {Patrick F.} and Jonathan Green and Anne Gilchrist and Jane Whittacker and Bryan Bolton and Ros Packer and Elena Maestrini and {Van Engeland}, Herman and {De Jonge}, {Maretha V.} and Chantal Kemner and Klauck, {Sabine M.} and Beyer, {Kim S.} and Sabine Epp and Annemarie Poustka and Axel Benner 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 Karen Brondum-Nielsen and Gunna Eriksen and Demetrious Haracopos 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 Susan Smalley and Julia Bailey and Amy Liu and Martha Dedricks and Lisa Chrzanowski and Jennifer Levitt and David Pauls and Fred Volkmar and Weeks, {Daniel E.}",

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year = "2001",

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doi = "10.1093/hmg/10.9.973",

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Palferman, S, Matthews, N, Turner, M, Moore, J, Hervas, A, Aubin, A, Wallace, S, Michelotti, J, Wainhouse, C, Paul, A, Thompson, E, Murin, M, Gupta, R, Garner, C, Pickles, A, Rutter, M, Bailey, A, Lamb, J, Marlow, A, Scudder, P, Barnby, G, 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, Bolton, PF, Green, J, Gilchrist, A, Whittacker, J, Bolton, B, Packer, R, Maestrini, E, Van Engeland, H, De Jonge, MV, Kemner, C, Klauck, SM, Beyer, KS, Epp, S, Poustka, A, Benner, A, Poustka, F, Rühl, D, Schmötzer, G, Bölte, S, Feineis-Matthews, S, Fombonne, E, Rogé, B, Fremolle-Kruck, J, Pienkowski, C, Tauber, MT, Pedersen, L, Brondum-Nielsen, K, Eriksen, G, Haracopos, D, Cotterill, RMJ, Tsiantis, J, Papanikolaou, K, Lord, C, Corsello, C, Guter, S, Leventhal, B, Cook, E, Smalley, S, Bailey, J, Liu, A, Dedricks, M, Chrzanowski, L, Levitt, J, Pauls, D, Volkmar, F & Weeks, DE 2001, 'Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q', Human Molecular Genetics, vol. 10, no. 9, pp. 973-982. https://doi.org/10.1093/hmg/10.9.973

TY - JOUR

T1 - Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q

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 - Murin, Marianne

AU - Gupta, Ramyani

AU - Garner, Claire

AU - Pickles, Andrew

AU - Rutter, Michael

AU - Bailey, Anthony

AU - Lamb, Janine

AU - Marlow, Angela

AU - Scudder, Pat

AU - Barnby, Gabrielle

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 - Bolton, Patrick F.

AU - Green, Jonathan

AU - Gilchrist, Anne

AU - Whittacker, Jane

AU - Bolton, Bryan

AU - Packer, Ros

AU - Maestrini, Elena

AU - Van Engeland, Herman

AU - De Jonge, Maretha V.

AU - Kemner, Chantal

AU - Klauck, Sabine M.

AU - Beyer, Kim S.

AU - Epp, Sabine

AU - Poustka, Annemarie

AU - Benner, Axel

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 - Brondum-Nielsen, Karen

AU - Eriksen, Gunna

AU - Haracopos, Demetrious

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

AU - Bailey, Julia

AU - Liu, Amy

AU - Dedricks, Martha

AU - Chrzanowski, Lisa

AU - Levitt, Jennifer

AU - Pauls, David

AU - Volkmar, Fred

AU - Weeks, Daniel E.

N1 - 5-P01-HD-35482-02, HD, NICHD NIH HHS, United StatesK02 MH01389, MH, NIMH NIH HHS, United StatesK05 MH01196, MH, NIMH NIH HHS, United StatesMO1 RR06022, RR, NCRR NIH HHS, United States

PY - 2001/4/15

Y1 - 2001/4/15

N2 - Autism is a neurodevelopmental disorder that usually arises on the basis of a complex genetic predisposition. The most significant susceptibility region in the first whole genome screen of multiplex families was on chromosome 7q, although this linkage was evident only in UK IMGSAC families. Subsequently all other genome screens of non-UK families have found some evidence of increased allele sharing in an overlapping 40 cM region of 7q. To further characterize this susceptibility locus, linkage analysis has now been completed on 170 multiplex IMGSAC families. Using a 5 cM marker grid, analysis of 125 sib pairs meeting stringent inclusion criteria resulted in a multipoint maximum LOD score (MLS) of 2.15 at D7S477, whereas analysis of all 153 sib pairs generated an MLS of 3.37. The 71 non-UK sib pairs now contribute to this linkage. Linkage disequilibrium mapping identified two regions of association-one lying under the peak of linkage, the other some 27 cM distal. These results are supported in part by findings in independent German and American singleton families.

AB - Autism is a neurodevelopmental disorder that usually arises on the basis of a complex genetic predisposition. The most significant susceptibility region in the first whole genome screen of multiplex families was on chromosome 7q, although this linkage was evident only in UK IMGSAC families. Subsequently all other genome screens of non-UK families have found some evidence of increased allele sharing in an overlapping 40 cM region of 7q. To further characterize this susceptibility locus, linkage analysis has now been completed on 170 multiplex IMGSAC families. Using a 5 cM marker grid, analysis of 125 sib pairs meeting stringent inclusion criteria resulted in a multipoint maximum LOD score (MLS) of 2.15 at D7S477, whereas analysis of all 153 sib pairs generated an MLS of 3.37. The 71 non-UK sib pairs now contribute to this linkage. Linkage disequilibrium mapping identified two regions of association-one lying under the peak of linkage, the other some 27 cM distal. These results are supported in part by findings in independent German and American singleton families.

KW - Alleles

KW - analysis

KW - Autistic Disorder

KW - Chromosome Mapping

KW - Chromosomes,Human

KW - Chromosomes,Human,Pair 7

KW - Disease Susceptibility

KW - Female

KW - Genetic Markers

KW - genetics

KW - Genome

KW - Genotype

KW - Human

KW - Linkage (Genetics)

KW - Linkage Disequilibrium

KW - Lod Score

KW - Male

KW - Polymerase Chain Reaction

KW - Support,Non-U.S.Gov't

KW - Support,U.S.Gov't,P.H.S.

U2 - 10.1093/hmg/10.9.973

DO - 10.1093/hmg/10.9.973

M3 - Article

C2 - 11392322

SN - 0964-6906

VL - 10

SP - 973

EP - 982

JO - Human Molecular Genetics

JF - Human Molecular Genetics

IS - 9

ER -

Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q

Abstract

Keywords

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