A full genome screen for autism with evidence for linkage to a region on chromosome 7q

Anthony Bailey; Amaia Hervas; Nicola Matthews; Sarah Palferman; Simon Wallace; Anne Aubin; Janine Michelotti; Catherine Wainhouse; Katerina Papanikolaou; Michael Rutter; Elena Maestrini; Angela Marlow; Daniel E. Weeks; Janine Lamb; Clyde Francks; Georgina Kearsley; Pat Scudder; Anthony P. Monaco; Gillian Baird; Anthony Cox; Helen Cockerill; Ann Le Couteur; Tom Berney; Hayley Cooper; Tom Kelly; Jonathan Green; Jane Whittaker; Anne Gilchrist; Patrick Bolton; Anne Schönewald; Michael Daker; Caroline Ogilvie; Zoe Docherty; Zandra Deans; Bryan Bolton; Ros Packer; Fritz Poustka; Dorothea Rühl; Gabriele Schmötzer; Sven Bölte; Sabine M. Klauck; Anja Spieler; Annemarie Poustka; Herman Van Engeland; Chantal Kemner; Maretha De Jonge; Ineke Den Hartog; Catherine Lord; Edwin Cook; Bennett Leventhal; Fred Volkmar; David Pauls; Ami Klin; Susan Smalley; Eric Fombonne; Bernadette Rogé; Maite Tauber; Evelyne Arti-Vartayan; Jeanne Fremolle-Kruck; Lennart Pederson; Demetrious Haracopos; Karen Brondum-Nielsen; Rodney Cotterill

doi:10.1093/hmg/7.3.571

A full genome screen for autism with evidence for linkage to a region on chromosome 7q

Anthony Bailey, Amaia Hervas, Nicola Matthews, Sarah Palferman, Simon Wallace, Anne Aubin, Janine Michelotti, Catherine Wainhouse, Katerina Papanikolaou, Michael Rutter, Elena Maestrini, Angela Marlow, Daniel E. Weeks, Janine Lamb, Clyde Francks, Georgina Kearsley, Pat Scudder, Anthony P. Monaco, Gillian Baird, Anthony CoxHelen Cockerill, Ann Le Couteur, Tom Berney, Hayley Cooper, Tom Kelly, Jonathan Green, Jane Whittaker, Anne Gilchrist, Patrick Bolton, Anne Schönewald, Michael Daker, Caroline Ogilvie, Zoe Docherty, Zandra Deans, Bryan Bolton, Ros Packer, Fritz Poustka, Dorothea Rühl, Gabriele Schmötzer, Sven Bölte, Sabine M. Klauck, Anja Spieler, Annemarie Poustka, Herman Van Engeland, Chantal Kemner, Maretha De Jonge, Ineke Den Hartog, Catherine Lord, Edwin Cook, Bennett Leventhal, Fred Volkmar, David Pauls, Ami Klin, Susan Smalley, Eric Fombonne, Bernadette Rogé, Maite Tauber, Evelyne Arti-Vartayan, Jeanne Fremolle-Kruck, Lennart Pederson, Demetrious Haracopos, Karen Brondum-Nielsen, Rodney Cotterill

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

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Abstract

Autism is characterized by impairments in reciprocal social interaction and communication, and restricted and stereotyped patterns of interests and activities. Developmental difficulties are apparent before 3 years of age and there is evidence for strong genetic influences most likely involving more than one susceptibility gene. A two-stage genome search for susceptibility loci in autism was performed on 87 affected sib pairs plus 12 non-sib affected relative-pairs, from a total of 99 families identified by an international consortium. Regions on six chromosomes (4, 7, 10, 16, 19 and 22) were identified which generated a multipoint maximum Iod score (MLS) > 1. A region on chromosome 7q was the most significant with an MLS of 3.55 near markers D7S530 and D7S684 in the subset of 56 UK affected sib-pair families, and an MLS of 2.53 in all 87 affected sib-pair families. An area on chromosome 16p near the telomere was the next most significant, with an MLS of 1.97 in the UK families, and 1.51 in all families. These results are an important step towards identifying genes predisposing to autism; establishing their general applicability requires further study.

Original language	English (US)
Pages (from-to)	571-578
Number of pages	8
Journal	Human molecular genetics
Volume	7
Issue number	3
DOIs	https://doi.org/10.1093/hmg/7.3.571
State	Published - Mar 1998
Externally published	Yes

ASJC Scopus subject areas

Molecular Biology
Genetics
Genetics(clinical)

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Bailey, A., Hervas, A., Matthews, N., Palferman, S., Wallace, S., Aubin, A., Michelotti, J., Wainhouse, C., Papanikolaou, K., Rutter, M., Maestrini, E., Marlow, A., Weeks, D. E., Lamb, J., Francks, C., Kearsley, G., Scudder, P., Monaco, A. P., Baird, G., ... Cotterill, R. (1998). A full genome screen for autism with evidence for linkage to a region on chromosome 7q. Human molecular genetics, 7(3), 571-578. https://doi.org/10.1093/hmg/7.3.571

Bailey, A, Hervas, A, Matthews, N, Palferman, S, Wallace, S, Aubin, A, Michelotti, J, Wainhouse, C, Papanikolaou, K, Rutter, M, Maestrini, E, Marlow, A, Weeks, DE, Lamb, J, Francks, C, Kearsley, G, Scudder, P, Monaco, AP, Baird, G, Cox, A, Cockerill, H, Le Couteur, A, Berney, T, Cooper, H, Kelly, T, Green, J, Whittaker, J, Gilchrist, A, Bolton, P, Schönewald, A, Daker, M, Ogilvie, C, Docherty, Z, Deans, Z, Bolton, B, Packer, R, Poustka, F, Rühl, D, Schmötzer, G, Bölte, S, Klauck, SM, Spieler, A, Poustka, A, Van Engeland, H, Kemner, C, De Jonge, M, Den Hartog, I, Lord, C, Cook, E, Leventhal, B, Volkmar, F, Pauls, D, Klin, A, Smalley, S, Fombonne, E, Rogé, B, Tauber, M, Arti-Vartayan, E, Fremolle-Kruck, J, Pederson, L, Haracopos, D, Brondum-Nielsen, K & Cotterill, R 1998, 'A full genome screen for autism with evidence for linkage to a region on chromosome 7q', Human molecular genetics, vol. 7, no. 3, pp. 571-578. https://doi.org/10.1093/hmg/7.3.571

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abstract = "Autism is characterized by impairments in reciprocal social interaction and communication, and restricted and stereotyped patterns of interests and activities. Developmental difficulties are apparent before 3 years of age and there is evidence for strong genetic influences most likely involving more than one susceptibility gene. A two-stage genome search for susceptibility loci in autism was performed on 87 affected sib pairs plus 12 non-sib affected relative-pairs, from a total of 99 families identified by an international consortium. Regions on six chromosomes (4, 7, 10, 16, 19 and 22) were identified which generated a multipoint maximum Iod score (MLS) > 1. A region on chromosome 7q was the most significant with an MLS of 3.55 near markers D7S530 and D7S684 in the subset of 56 UK affected sib-pair families, and an MLS of 2.53 in all 87 affected sib-pair families. An area on chromosome 16p near the telomere was the next most significant, with an MLS of 1.97 in the UK families, and 1.51 in all families. These results are an important step towards identifying genes predisposing to autism; establishing their general applicability requires further study.",

author = "Anthony Bailey and Amaia Hervas and Nicola Matthews and Sarah Palferman and Simon Wallace and Anne Aubin and Janine Michelotti and Catherine Wainhouse and Katerina Papanikolaou and Michael Rutter and Elena Maestrini and Angela Marlow and Weeks, {Daniel E.} and Janine Lamb and Clyde Francks and Georgina Kearsley and Pat Scudder and Monaco, {Anthony P.} and Gillian Baird and Anthony Cox and Helen Cockerill and {Le Couteur}, Ann and Tom Berney and Hayley Cooper and Tom Kelly and Jonathan Green and Jane Whittaker and Anne Gilchrist and Patrick Bolton and Anne Sch{\"o}newald and Michael Daker and Caroline Ogilvie and Zoe Docherty and Zandra Deans and Bryan Bolton and Ros Packer and Fritz Poustka and Dorothea R{\"u}hl and Gabriele Schm{\"o}tzer and Sven B{\"o}lte and Klauck, {Sabine M.} and Anja Spieler and Annemarie Poustka and {Van Engeland}, Herman and Chantal Kemner and {De Jonge}, Maretha and {Den Hartog}, Ineke and Catherine Lord and Edwin Cook and Bennett Leventhal and Fred Volkmar and David Pauls and Ami Klin and Susan Smalley and Eric Fombonne and Bernadette Rog{\'e} and Maite Tauber and Evelyne Arti-Vartayan and Jeanne Fremolle-Kruck and Lennart Pederson and Demetrious Haracopos and Karen Brondum-Nielsen and Rodney Cotterill",

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AU - Wallace, Simon

AU - Aubin, Anne

AU - Michelotti, Janine

AU - Wainhouse, Catherine

AU - Papanikolaou, Katerina

AU - Rutter, Michael

AU - Maestrini, Elena

AU - Marlow, Angela

AU - Weeks, Daniel E.

AU - Lamb, Janine

AU - Francks, Clyde

AU - Kearsley, Georgina

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AU - Berney, Tom

AU - Cooper, Hayley

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AU - Green, Jonathan

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AU - Bolton, Bryan

AU - Packer, Ros

AU - Poustka, Fritz

AU - Rühl, Dorothea

AU - Schmötzer, Gabriele

AU - Bölte, Sven

AU - Klauck, Sabine M.

AU - Spieler, Anja

AU - Poustka, Annemarie

AU - Van Engeland, Herman

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N2 - Autism is characterized by impairments in reciprocal social interaction and communication, and restricted and stereotyped patterns of interests and activities. Developmental difficulties are apparent before 3 years of age and there is evidence for strong genetic influences most likely involving more than one susceptibility gene. A two-stage genome search for susceptibility loci in autism was performed on 87 affected sib pairs plus 12 non-sib affected relative-pairs, from a total of 99 families identified by an international consortium. Regions on six chromosomes (4, 7, 10, 16, 19 and 22) were identified which generated a multipoint maximum Iod score (MLS) > 1. A region on chromosome 7q was the most significant with an MLS of 3.55 near markers D7S530 and D7S684 in the subset of 56 UK affected sib-pair families, and an MLS of 2.53 in all 87 affected sib-pair families. An area on chromosome 16p near the telomere was the next most significant, with an MLS of 1.97 in the UK families, and 1.51 in all families. These results are an important step towards identifying genes predisposing to autism; establishing their general applicability requires further study.

AB - Autism is characterized by impairments in reciprocal social interaction and communication, and restricted and stereotyped patterns of interests and activities. Developmental difficulties are apparent before 3 years of age and there is evidence for strong genetic influences most likely involving more than one susceptibility gene. A two-stage genome search for susceptibility loci in autism was performed on 87 affected sib pairs plus 12 non-sib affected relative-pairs, from a total of 99 families identified by an international consortium. Regions on six chromosomes (4, 7, 10, 16, 19 and 22) were identified which generated a multipoint maximum Iod score (MLS) > 1. A region on chromosome 7q was the most significant with an MLS of 3.55 near markers D7S530 and D7S684 in the subset of 56 UK affected sib-pair families, and an MLS of 2.53 in all 87 affected sib-pair families. An area on chromosome 16p near the telomere was the next most significant, with an MLS of 1.97 in the UK families, and 1.51 in all families. These results are an important step towards identifying genes predisposing to autism; establishing their general applicability requires further study.

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A full genome screen for autism with evidence for linkage to a region on chromosome 7q

Abstract

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