Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Academic Article uri icon

Overview

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.

authors

publication date

  • February 18, 2007

Research

keywords

  • Autistic Disorder
  • Chromosome Aberrations
  • Chromosome Mapping
  • Genetic Linkage
  • Genetic Predisposition to Disease
  • Genetic Testing

Identity

PubMed Central ID

  • PMC4867008

Scopus Document Identifier

  • 33847327313

Digital Object Identifier (DOI)

  • 10.1038/ng1985

PubMed ID

  • 17322880

Additional Document Info

volume

  • 39

issue

  • 3