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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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References

    1. Fombonne E. Epidemiology of autistic disorder and other pervasive developmental disorders. J. Clin. Psychiatry. 2005;66(Suppl 10):3–8. - PubMed
    1. Blomquist HK, et al. Frequency of the fragile X syndrome in infantile autism. A Swedish multicenter study. Clin. Genet. 1985;27:113–117. - PubMed
    1. Jacquemont ML, et al. Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. J. Med. Genet. 2006;43:843–849. The numerous de novo deletions that are reported in this work have received relatively little attention but are probably important in the ASDs. These data also show that rare de novo mutations are likely to appear at particularly high frequencies in syndromic populations. - PMC - PubMed
    1. Sebat J, et al. Strong association of de novo copy number mutations with autism. Science. 2007;316:445–449. Beyond identifying important CNV likely to prove important to our understanding of the ASDs, this study highlights a significant difference in the frequency of de novo variants between simplex and multiplex families, raising the possibility that distinct mechanisms are involved in each. - PMC - PubMed
    1. Szatmari P, et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genet. 2007;39:319–328. This work — the largest ASD linkage study published to date — identifies a number of new loci that merit additional attention. Lack of overlap with previously published studies underscores the importance of genetic and phenotypic heterogeneity in ASDs. - PMC - PubMed

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