Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Peter Szatmari; Andrew D. Paterson; Lonnie Zwaigenbaum; Wendy Roberts; Jessica Brian; Xiao Qing Liu; John B. Vincent; Jennifer L. Skaug; Ann P. Thompson; Lili Senman; Lars Feuk; Cheng Qian; Susan E. Bryson; Marshall B. Jones; Christian R. Marshall; Stephen W. Scherer; Veronica J. Vieland; Christopher Bartlett; La Vonne Mangin; Rhinda Goedken; Alberto Segre; Margaret A. Pericak-Vance; Michael L. Cuccaro; John R. Gilbert; Harry H. Wright; Ruth K. Abramson; Catalina Betancur; Thomas Bourgeron; Christopher Gillberg; Marion Leboyer; Joseph D. Buxbaum; Kenneth L. Davis; Eric Hollander; Jeremy M. Silverman; Joachim Hallmayer; Linda Lotspeich; James S. Sutcliffe; Jonathan L. Haines; Susan E. Folstein; Joseph Piven; Thomas H. Wassink; Val Sheffield; Daniel H. Geschwind; Maja Bucan; W. Ted Brown; Rita M. Cantor; John N. Constantino; T. Conrad Gilliam; Martha Herbert; Clara LaJonchere; David H. Ledbetter; Christa Lese-Martin; Janet Miller; Stan Nelson; Carol A. Samango-Sprouse; Sarah Spence; Matthew State; Rudolph E. Tanzi; Hilary Coon; Geraldine Dawson; Bernie Devlin; Annette Estes; Pamela Flodman; Lambertus Klei; William M. McMahon; Nancy Minshew; Jeff Munson; Elena Korvatska; Patricia M. Rodier; Gerard D. Schellenberg; Moyra Smith; M. Anne Spence; Chris Stodgell; Ping Guo Tepper; Ellen M. Wijsman; Chang En Yu; Bernadette Rogé; Carine Mantoulan; Kerstin Wittemeyer; Annemarie Poustka; Bärbel Felder; Sabine M. Klauck; Claudia Schuster; Fritz Poustka; Sven Bölte; Sabine Feineis-Matthews; Evelyn Herbrecht; Gabi Schmötzer; John Tsiantis; Katerina Papanikolaou; Elena Maestrini; Elena Bacchelli; Francesca Blasi; Simona Carone; Claudio Toma; Herman Van Engeland; Maretha De Jonge; Chantal Kemner; Frederike Koop; Marjolijn Langemeijer; Channa Hijimans; Wouter G. Staal; Gillian Baird; Patrick F. Bolton; Michael L. Rutter; Emma Weisblatt; Jonathan Green; Catherine Aldred; Julie Anne Wilkinson; Andrew Pickles; Ann Le Couteur; Tom Berney; Helen McConachie; Anthony J. Bailey; Kostas Francis; Gemma Honeyman; Aislinn Hutchinson; Jeremy R. Parr; Simon Wallace; Anthony P. Monaco; Gabrielle Barnby; Kazuhiro Kobayashi; Janine A. Lamb; Ines Sousa; Nuala Sykes; Edwin H. Cook; Stephen J. Guter; Bennett L. Leventhal; Jeff Salt; Catherine Lord; Christina Corsello; Vanessa Hus; Daniel E. Weeks; Fred Volkmar; Maïté Tauber; Eric Fombonne; Andy Shih

doi:10.1038/ng1985

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Peter Szatmari, Andrew D. Paterson, Lonnie Zwaigenbaum, Wendy Roberts, Jessica Brian, Xiao Qing Liu, John B. Vincent, Jennifer L. Skaug, Ann P. Thompson, Lili Senman, Lars Feuk, Cheng Qian, Susan E. Bryson, Marshall B. Jones, Christian R. Marshall, Stephen W. Scherer, Veronica J. Vieland, Christopher Bartlett, La Vonne Mangin, Rhinda GoedkenAlberto Segre, Margaret A. Pericak-Vance, Michael L. Cuccaro, John R. Gilbert, Harry H. Wright, Ruth K. Abramson, Catalina Betancur, Thomas Bourgeron, Christopher Gillberg, Marion Leboyer, Joseph D. Buxbaum, Kenneth L. Davis, Eric Hollander, Jeremy M. Silverman, Joachim Hallmayer, Linda Lotspeich, James S. Sutcliffe, Jonathan L. Haines, Susan E. Folstein, Joseph Piven, Thomas H. Wassink, Val Sheffield, Daniel H. Geschwind, Maja Bucan, W. Ted Brown, Rita M. Cantor, John N. Constantino, T. Conrad Gilliam, Martha Herbert, Clara LaJonchere, David H. Ledbetter, Christa Lese-Martin, Janet Miller, Stan Nelson, Carol A. Samango-Sprouse, Sarah Spence, Matthew State, Rudolph E. Tanzi, Hilary Coon, Geraldine Dawson, Bernie Devlin, Annette Estes, Pamela Flodman, Lambertus Klei, William M. McMahon, Nancy Minshew, Jeff Munson, Elena Korvatska, Patricia M. Rodier, Gerard D. Schellenberg, Moyra Smith, M. Anne Spence, Chris Stodgell, Ping Guo Tepper, Ellen M. Wijsman, Chang En Yu, Bernadette Rogé, Carine Mantoulan, Kerstin Wittemeyer, Annemarie Poustka, Bärbel Felder, Sabine M. Klauck, Claudia Schuster, Fritz Poustka, Sven Bölte, Sabine Feineis-Matthews, Evelyn Herbrecht, Gabi Schmötzer, John Tsiantis, Katerina Papanikolaou, Elena Maestrini, Elena Bacchelli, Francesca Blasi, Simona Carone, Claudio Toma, Herman Van Engeland, Maretha De Jonge, Chantal Kemner, Frederike Koop, Marjolijn Langemeijer, Channa Hijimans, Wouter G. Staal, Gillian Baird, Patrick F. Bolton, Michael L. Rutter, Emma Weisblatt, Jonathan Green, Catherine Aldred, Julie Anne Wilkinson, Andrew Pickles, Ann Le Couteur, Tom Berney, Helen McConachie, Anthony J. Bailey, Kostas Francis, Gemma Honeyman, Aislinn Hutchinson, Jeremy R. Parr, Simon Wallace, Anthony P. Monaco, Gabrielle Barnby, Kazuhiro Kobayashi, Janine A. Lamb, Ines Sousa, Nuala Sykes, Edwin H. Cook, Stephen J. Guter, Bennett L. Leventhal, Jeff Salt, Catherine Lord, Christina Corsello, Vanessa Hus, Daniel E. Weeks, Fred Volkmar, Maïté Tauber, Eric Fombonne, Andy Shih

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

Abstract

Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,168 families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs. © 2007 Nature Publishing Group.

Original language	English
Pages (from-to)	319-328
Number of pages	9
Journal	Nature Genetics
Volume	39
Issue number	3
DOIs	https://doi.org/10.1038/ng1985
Publication status	Published - Mar 2007

Keywords

diagnosis: Autistic Disorder
Chromosome Aberrations
Chromosome Mapping
Family
Female
Genetic Predisposition to Disease
methods: Genetic Screening
Humans
Linkage (Genetics)
Lod Score
Male
Risk Factors
Variation (Genetics)

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10.1038/ng1985

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Szatmari, P., Paterson, A. D., Zwaigenbaum, L., Roberts, W., Brian, J., Liu, X. Q., Vincent, J. B., Skaug, J. L., Thompson, A. P., Senman, L., Feuk, L., Qian, C., Bryson, S. E., Jones, M. B., Marshall, C. R., Scherer, S. W., Vieland, V. J., Bartlett, C., Mangin, L. V., ... Shih, A. (2007). Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics, 39(3), 319-328. https://doi.org/10.1038/ng1985

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title = "Mapping autism risk loci using genetic linkage and chromosomal rearrangements",

abstract = "Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,168 families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs. {\textcopyright} 2007 Nature Publishing Group.",

keywords = "diagnosis: Autistic Disorder, Chromosome Aberrations, Chromosome Mapping, Family, Female, Genetic Predisposition to Disease, methods: Genetic Screening, Humans, Linkage (Genetics), Lod Score, Male, Risk Factors, Variation (Genetics)",

author = "Peter Szatmari and Paterson, {Andrew D.} and Lonnie Zwaigenbaum and Wendy Roberts and Jessica Brian and Liu, {Xiao Qing} and Vincent, {John B.} and Skaug, {Jennifer L.} and Thompson, {Ann P.} and Lili Senman and Lars Feuk and Cheng Qian and Bryson, {Susan E.} and Jones, {Marshall B.} and Marshall, {Christian R.} and Scherer, {Stephen W.} and Vieland, {Veronica J.} and Christopher Bartlett and Mangin, {La Vonne} and Rhinda Goedken and Alberto Segre and Pericak-Vance, {Margaret A.} and Cuccaro, {Michael L.} and Gilbert, {John R.} and Wright, {Harry H.} and Abramson, {Ruth K.} and Catalina Betancur and Thomas Bourgeron and Christopher Gillberg and Marion Leboyer and Buxbaum, {Joseph D.} and Davis, {Kenneth L.} and Eric Hollander and Silverman, {Jeremy M.} and Joachim Hallmayer and Linda Lotspeich and Sutcliffe, {James S.} and Haines, {Jonathan L.} and Folstein, {Susan E.} and Joseph Piven and Wassink, {Thomas H.} and Val Sheffield and Geschwind, {Daniel H.} and Maja Bucan and Brown, {W. Ted} and Cantor, {Rita M.} and Constantino, {John N.} and Gilliam, {T. Conrad} and Martha Herbert and Clara LaJonchere and Ledbetter, {David H.} and Christa Lese-Martin and Janet Miller and Stan Nelson and Samango-Sprouse, {Carol A.} and Sarah Spence and Matthew State and Tanzi, {Rudolph E.} and Hilary Coon and Geraldine Dawson and Bernie Devlin and Annette Estes and Pamela Flodman and Lambertus Klei and McMahon, {William M.} and Nancy Minshew and Jeff Munson and Elena Korvatska and Rodier, {Patricia M.} and Schellenberg, {Gerard D.} and Moyra Smith and Spence, {M. Anne} and Chris Stodgell and Tepper, {Ping Guo} and Wijsman, {Ellen M.} and Yu, {Chang En} and Bernadette Rog{\'e} and Carine Mantoulan and Kerstin Wittemeyer and Annemarie Poustka and B{\"a}rbel Felder and Klauck, {Sabine M.} and Claudia Schuster and Fritz Poustka and Sven B{\"o}lte and Sabine Feineis-Matthews and Evelyn Herbrecht and Gabi Schm{\"o}tzer and John Tsiantis and Katerina Papanikolaou and Elena Maestrini and Elena Bacchelli and Francesca Blasi and Simona Carone and Claudio Toma and {Van Engeland}, Herman and {De Jonge}, Maretha and Chantal Kemner and Frederike Koop and Marjolijn Langemeijer and Channa Hijimans and Staal, {Wouter G.} and Gillian Baird and Bolton, {Patrick F.} and Rutter, {Michael L.} and Emma Weisblatt and Jonathan Green and Catherine Aldred and Wilkinson, {Julie Anne} and Andrew Pickles and {Le Couteur}, Ann and Tom Berney and Helen McConachie and Bailey, {Anthony J.} and Kostas Francis and Gemma Honeyman and Aislinn Hutchinson and Parr, {Jeremy R.} and Simon Wallace and Monaco, {Anthony P.} and Gabrielle Barnby and Kazuhiro Kobayashi and Lamb, {Janine A.} and Ines Sousa and Nuala Sykes and Cook, {Edwin H.} and Guter, {Stephen J.} and Leventhal, {Bennett L.} and Jeff Salt and Catherine Lord and Christina Corsello and Vanessa Hus and Weeks, {Daniel E.} and Fred Volkmar and Ma{\"i}t{\'e} Tauber and Eric Fombonne and Andy Shih",

year = "2007",

month = mar,

doi = "10.1038/ng1985",

language = "English",

volume = "39",

pages = "319--328",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Research",

number = "3",

}

Szatmari, P, Paterson, AD, Zwaigenbaum, L, Roberts, W, Brian, J, Liu, XQ, Vincent, JB, Skaug, JL, Thompson, AP, Senman, L, Feuk, L, Qian, C, Bryson, SE, Jones, MB, Marshall, CR, Scherer, SW, Vieland, VJ, Bartlett, C, Mangin, LV, Goedken, R, Segre, A, Pericak-Vance, MA, Cuccaro, ML, Gilbert, JR, Wright, HH, Abramson, RK, Betancur, C, Bourgeron, T, Gillberg, C, Leboyer, M, Buxbaum, JD, Davis, KL, Hollander, E, Silverman, JM, Hallmayer, J, Lotspeich, L, Sutcliffe, JS, Haines, JL, Folstein, SE, Piven, J, Wassink, TH, Sheffield, V, Geschwind, DH, Bucan, M, Brown, WT, Cantor, RM, Constantino, JN, Gilliam, TC, Herbert, M, LaJonchere, C, Ledbetter, DH, Lese-Martin, C, Miller, J, Nelson, S, Samango-Sprouse, CA, Spence, S, State, M, Tanzi, RE, Coon, H, Dawson, G, Devlin, B, Estes, A, Flodman, P, Klei, L, McMahon, WM, Minshew, N, Munson, J, Korvatska, E, Rodier, PM, Schellenberg, GD, Smith, M, Spence, MA, Stodgell, C, Tepper, PG, Wijsman, EM, Yu, CE, Rogé, B, Mantoulan, C, Wittemeyer, K, Poustka, A, Felder, B, Klauck, SM, Schuster, C, Poustka, F, Bölte, S, Feineis-Matthews, S, Herbrecht, E, Schmötzer, G, Tsiantis, J, Papanikolaou, K, Maestrini, E, Bacchelli, E, Blasi, F, Carone, S, Toma, C, Van Engeland, H, De Jonge, M, Kemner, C, Koop, F, Langemeijer, M, Hijimans, C, Staal, WG, Baird, G, Bolton, PF, Rutter, ML, Weisblatt, E, Green, J, Aldred, C, Wilkinson, JA, Pickles, A, Le Couteur, A, Berney, T, McConachie, H, Bailey, AJ, Francis, K, Honeyman, G, Hutchinson, A, Parr, JR, Wallace, S, Monaco, AP, Barnby, G, Kobayashi, K, Lamb, JA, Sousa, I, Sykes, N, Cook, EH, Guter, SJ, Leventhal, BL, Salt, J, Lord, C, Corsello, C, Hus, V, Weeks, DE, Volkmar, F, Tauber, M, Fombonne, E & Shih, A 2007, 'Mapping autism risk loci using genetic linkage and chromosomal rearrangements', Nature Genetics, vol. 39, no. 3, pp. 319-328. https://doi.org/10.1038/ng1985

TY - JOUR

T1 - Mapping autism risk loci using genetic linkage and chromosomal rearrangements

AU - Szatmari, Peter

AU - Paterson, Andrew D.

AU - Zwaigenbaum, Lonnie

AU - Roberts, Wendy

AU - Brian, Jessica

AU - Liu, Xiao Qing

AU - Vincent, John B.

AU - Skaug, Jennifer L.

AU - Thompson, Ann P.

AU - Senman, Lili

AU - Feuk, Lars

AU - Qian, Cheng

AU - Bryson, Susan E.

AU - Jones, Marshall B.

AU - Marshall, Christian R.

AU - Scherer, Stephen W.

AU - Vieland, Veronica J.

AU - Bartlett, Christopher

AU - Mangin, La Vonne

AU - Goedken, Rhinda

AU - Segre, Alberto

AU - Pericak-Vance, Margaret A.

AU - Cuccaro, Michael L.

AU - Gilbert, John R.

AU - Wright, Harry H.

AU - Abramson, Ruth K.

AU - Betancur, Catalina

AU - Bourgeron, Thomas

AU - Gillberg, Christopher

AU - Leboyer, Marion

AU - Buxbaum, Joseph D.

AU - Davis, Kenneth L.

AU - Hollander, Eric

AU - Silverman, Jeremy M.

AU - Hallmayer, Joachim

AU - Lotspeich, Linda

AU - Sutcliffe, James S.

AU - Haines, Jonathan L.

AU - Folstein, Susan E.

AU - Piven, Joseph

AU - Wassink, Thomas H.

AU - Sheffield, Val

AU - Geschwind, Daniel H.

AU - Bucan, Maja

AU - Brown, W. Ted

AU - Cantor, Rita M.

AU - Constantino, John N.

AU - Gilliam, T. Conrad

AU - Herbert, Martha

AU - LaJonchere, Clara

AU - Ledbetter, David H.

AU - Lese-Martin, Christa

AU - Miller, Janet

AU - Nelson, Stan

AU - Samango-Sprouse, Carol A.

AU - Spence, Sarah

AU - State, Matthew

AU - Tanzi, Rudolph E.

AU - Coon, Hilary

AU - Dawson, Geraldine

AU - Devlin, Bernie

AU - Estes, Annette

AU - Flodman, Pamela

AU - Klei, Lambertus

AU - McMahon, William M.

AU - Minshew, Nancy

AU - Munson, Jeff

AU - Korvatska, Elena

AU - Rodier, Patricia M.

AU - Schellenberg, Gerard D.

AU - Smith, Moyra

AU - Spence, M. Anne

AU - Stodgell, Chris

AU - Tepper, Ping Guo

AU - Wijsman, Ellen M.

AU - Yu, Chang En

AU - Rogé, Bernadette

AU - Mantoulan, Carine

AU - Wittemeyer, Kerstin

AU - Poustka, Annemarie

AU - Felder, Bärbel

AU - Klauck, Sabine M.

AU - Schuster, Claudia

AU - Poustka, Fritz

AU - Bölte, Sven

AU - Feineis-Matthews, Sabine

AU - Herbrecht, Evelyn

AU - Schmötzer, Gabi

AU - Tsiantis, John

AU - Papanikolaou, Katerina

AU - Maestrini, Elena

AU - Bacchelli, Elena

AU - Blasi, Francesca

AU - Carone, Simona

AU - Toma, Claudio

AU - Van Engeland, Herman

AU - De Jonge, Maretha

AU - Kemner, Chantal

AU - Koop, Frederike

AU - Langemeijer, Marjolijn

AU - Hijimans, Channa

AU - Staal, Wouter G.

AU - Baird, Gillian

AU - Bolton, Patrick F.

AU - Rutter, Michael L.

AU - Weisblatt, Emma

AU - Green, Jonathan

AU - Aldred, Catherine

AU - Wilkinson, Julie Anne

AU - Pickles, Andrew

AU - Le Couteur, Ann

AU - Berney, Tom

AU - McConachie, Helen

AU - Bailey, Anthony J.

AU - Francis, Kostas

AU - Honeyman, Gemma

AU - Hutchinson, Aislinn

AU - Parr, Jeremy R.

AU - Wallace, Simon

AU - Monaco, Anthony P.

AU - Barnby, Gabrielle

AU - Kobayashi, Kazuhiro

AU - Lamb, Janine A.

AU - Sousa, Ines

AU - Sykes, Nuala

AU - Cook, Edwin H.

AU - Guter, Stephen J.

AU - Leventhal, Bennett L.

AU - Salt, Jeff

AU - Lord, Catherine

AU - Corsello, Christina

AU - Hus, Vanessa

AU - Weeks, Daniel E.

AU - Volkmar, Fred

AU - Tauber, Maïté

AU - Fombonne, Eric

AU - Shih, Andy

PY - 2007/3

Y1 - 2007/3

N2 - Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,168 families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs. © 2007 Nature Publishing Group.

AB - Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,168 families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs. © 2007 Nature Publishing Group.

KW - diagnosis: Autistic Disorder

KW - Chromosome Aberrations

KW - Chromosome Mapping

KW - Family

KW - Female

KW - Genetic Predisposition to Disease

KW - methods: Genetic Screening

KW - Humans

KW - Linkage (Genetics)

KW - Lod Score

KW - Male

KW - Risk Factors

KW - Variation (Genetics)

U2 - 10.1038/ng1985

DO - 10.1038/ng1985

M3 - Article

SN - 1061-4036

VL - 39

SP - 319

EP - 328

JO - Nature Genetics

JF - Nature Genetics

IS - 3

ER -

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Abstract

Keywords

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