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Review
. 2008 May;9(5):341-55.
doi: 10.1038/nrg2346.

Advances in autism genetics: on the threshold of a new neurobiology

Brett S Abrahams  1 , Daniel H Geschwind
Affiliations
Review

Advances in autism genetics: on the threshold of a new neurobiology

Brett S Abrahams et al. Nat Rev Genet. 2008 May.

Erratum in

  • Nat Rev Genet. 2008 Jun;9(6):493

Abstract

Autism is a heterogeneous syndrome defined by impairments in three core domains: social interaction, language and range of interests. Recent work has led to the identification of several autism susceptibility genes and an increased appreciation of the contribution of de novo and inherited copy number variation. Promising strategies are also being applied to identify common genetic risk variants. Systems biology approaches, including array-based expression profiling, are poised to provide additional insights into this group of disorders, in which heterogeneity, both genetic and phenotypic, is emerging as a dominant theme.

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Figures

Figure 1
Figure 1. Loci implicated in ASD etiology
Entries in the ID column of the table map link entries to the ideograms of individual chromosomes. Red and yellow bars correspond to de novo losses and gains, respectively, that are observed in cases but not in controls. Green bars correspond to genes that are observed to modulate autism spectrum disorder (ASD) risk (either through a rare syndrome or genetic association): light green and dark green bars represent promising or probable candidate genes, respectively, as defined in TABLE 2. Regions shaded in purple correspond to linkage peaks. Only human data were considered in the assembly of the table. AHI1, Abelson helper intergration site 1; AVPR1A, arginine vasopressin receptor 1A; CACNA1C, calcium channel voltage-dependent L type alpha 1C subunit; CADPS2, Ca2+-dependent activator protein for secretion 2; CNTNAP2, contactin associated protein-like 2; DHCR7, 7-dehydrocholesterol reductase; DISC1, disrupted in schizophrenia 1; EN2, engrailed homeobox 2; FMR1, fragile X mental retardation 1; GABRB3, gamma-aminobutyric acid (GABA) A receptor beta 3; GRIK2, glutamate receptor ionotropic kainate 2; ITGB3, integrin beta 3; MECP2, methyl CpG binding protein 2; MET, met proto-oncogene; NLGN3, neuroligin 3; NLGN4X, neuroligin 4 X-linked; NRXN1, neurexin 1; OXTR, oxytocin receptor; PTEN, phosphatase and tensin homologue; RELN, reelin; SHANK3, SH3 and multiple ankyrin repeat domains protein 3; SLC25A12, solute carrier family 25 (mitochondrial carrier, Aralar) member 12; SLC6A4, solute carrier family 6 (neurotransmitter transporter, serotonin) member 4; TSC1, tuberous sclerosis 1; TSC2, tuberous sclerosis 2; UBE3A, ubiquitin protein ligase E3A.
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