Mapping autism risk loci using genetic linkage and chromosomal rearrangements

P. Szatmari; A.D. Paterson; L. Zwaigenbaum; W. Roberts; J. Brian; X.Q. Liu; J.B. Vincent; J.L. Skaug; A.P. Thompson; L. Senman; L. Feuk; C. Qian; S.E. Bryson; M.B. Jones; C. Kemner; Stephen W. Scherer; Bernie Devlin

doi:10.1038/ng1985

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

P. Szatmari, A.D. Paterson, L. Zwaigenbaum, W. Roberts, J. Brian, X.Q. Liu, J.B. Vincent, J.L. Skaug, A.P. Thompson, L. Senman, L. Feuk, C. Qian, S.E. Bryson, M.B. Jones, C. Kemner, Stephen W. Scherer^*, Bernie Devlin^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › 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 1,181 [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.

Original language	English
Pages (from-to)	319-28
Journal	Nature Genetics
Volume	39
Issue number	3
DOIs	https://doi.org/10.1038/ng1985
Publication status	Published - 1 Jan 2007

Access to Document

10.1038/ng1985

Cite this

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., Kemner, C., Scherer, S. W., & Devlin, B. (2007). Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics, 39(3), 319-28. https://doi.org/10.1038/ng1985

@article{6ef13833016a4bb1b61300efd4a71bef,

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 1,181 [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.",

author = "P. Szatmari and A.D. Paterson and L. Zwaigenbaum and W. Roberts and J. Brian and X.Q. Liu and J.B. Vincent and J.L. Skaug and A.P. Thompson and L. Senman and L. Feuk and C. Qian and S.E. Bryson and M.B. Jones and C. Kemner and Scherer, {Stephen W.} and Bernie Devlin",

year = "2007",

month = jan,

day = "1",

doi = "10.1038/ng1985",

language = "English",

volume = "39",

pages = "319--28",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

number = "3",

}

TY - JOUR

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

AU - Szatmari, P.

AU - Paterson, A.D.

AU - Zwaigenbaum, L.

AU - Roberts, W.

AU - Brian, J.

AU - Liu, X.Q.

AU - Vincent, J.B.

AU - Skaug, J.L.

AU - Thompson, A.P.

AU - Senman, L.

AU - Feuk, L.

AU - Qian, C.

AU - Bryson, S.E.

AU - Jones, M.B.

AU - Kemner, C.

AU - Scherer, Stephen W.

AU - Devlin, Bernie

PY - 2007/1/1

Y1 - 2007/1/1

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 1,181 [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.

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 1,181 [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.

U2 - 10.1038/ng1985

DO - 10.1038/ng1985

M3 - Article

C2 - 17322880

SN - 1061-4036

VL - 39

SP - 319

EP - 328

JO - Nature Genetics

JF - Nature Genetics

IS - 3

ER -