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

Author:

Abrahams Brett S.,Geschwind Daniel H.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics,Molecular Biology

Reference152 articles.

1. Fombonne, E. Epidemiology of autistic disorder and other pervasive developmental disorders. J. Clin. Psychiatry 66 (Suppl. 10), 3–8 (2005).

2. Blomquist, H. K. et al. Frequency of the fragile X syndrome in infantile autism. A Swedish multicenter study. Clin. Genet. 27, 113–117 (1985).

3. Jacquemont, M. L. et al. Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. J. Med. Genet. 43, 843–849 (2006). 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.

4. Sebat, J. et al. Strong association of de novo copy number mutations with autism. Science 316, 445–449 (2007). 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.

5. Szatmari, P. et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genet. 39, 319–328 (2007). 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.

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