Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

Journal Article (Journal Article)

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 1,181 [corrected] 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.

Full Text

Duke Authors

Cited Authors

  • Autism Genome Project Consortium, ; Szatmari, P; Paterson, AD; Zwaigenbaum, L; Roberts, W; Brian, J; Liu, X-Q; 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, C-E; 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; Hijmans, C; Staal, WG; Baird, G; Bolton, PF; Rutter, ML; Weisblatt, E; Green, J; Aldred, C; Wilkinson, J-A; 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; Meyer, KJ

Published Date

  • March 2007

Published In

Volume / Issue

  • 39 / 3

Start / End Page

  • 319 - 328

PubMed ID

  • 17322880

Pubmed Central ID

  • PMC4867008

International Standard Serial Number (ISSN)

  • 1061-4036

Digital Object Identifier (DOI)

  • 10.1038/ng1985


  • eng

Conference Location

  • United States