Advances in autism genetics: on the threshold of a new neurobiology
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
http://www.nature.com/articles/nrg2346.pdf
Reference152 articles.
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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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