Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

TitleMapping autism risk loci using genetic linkage and chromosomal rearrangements.
Publication TypeJournal Article
Year of Publication2007
AuthorsSzatmari, P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu X-Q, Vincent JB, Skaug JL, Thompson AP, Senman L et al.
Corporate AuthorsAutism Genome Project Consortium
JournalNature genetics
Date Published2007 Mar
KeywordsAutistic Disorder, Chromosome Aberrations, Chromosome Mapping, Family, Female, Genetic Linkage, Genetic Predisposition to Disease, Genetic Testing, Genetic Variation, Humans, Lod Score, Male, Risk Factors

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.

Alternate JournalNat. Genet.