Genetic research in autism spectrum disorders

Current Opinion in Pediatrics

Volumn 27, Issue 6, 2015, Pages 685-691

  Robinson, Elise B ^a,b   Neale, Benjamin M ^a,b   Hyman, Steven E ^b,c  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^c Harvard University   (United States)

Author keywords

Autism; Exome sequencing; Genetics; GWAS

Indexed keywords

AUTISM; COPY NUMBER VARIATION; GENETIC HETEROGENEITY; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HUMAN; INHERITANCE; META ANALYSIS (TOPIC); PHENOTYPE; PRIORITY JOURNAL; RARE DISEASE; REVIEW; AUTISM SPECTRUM DISORDER; DNA SEQUENCE; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETIC VARIATION; GENETICS; HUMAN GENOME; RISK FACTOR; SEQUENCE ANALYSIS; TWIN STUDY;

AUTISM SPECTRUM DISORDER; DNA COPY NUMBER VARIATIONS; GENETIC PREDISPOSITION TO DISEASE; GENETIC RESEARCH; GENETIC TESTING; GENETIC VARIATION; GENOME, HUMAN; HUMANS; INHERITANCE PATTERNS; RISK FACTORS; SEQUENCE ANALYSIS, DNA; SEQUENCE ANALYSIS, RNA; TWIN STUDIES AS TOPIC;

EID: 84947488265     PISSN: 10408703     EISSN: 1531698X     Source Type: Journal    
DOI: 10.1097/MOP.0000000000000278     Document Type: Review

References (42)

1. Ronald A, Hoekstra RA. Autism spectrum disorders and autistic traits: a decade of new twin studies. Am J Med Genet B Neuropsychiatr Genet 2011; 156:255-274.
2. Gaugler T, Klei L, Sanders SJ, et al. Most genetic risk for autism resides with common variation. Nat Genet 2014; 46:881-885.
3. Iossifov I, O'Roak BJ, Sanders SJ, et al. The contribution of de-novo coding mutations to autism spectrum disorder. Nature 2014; 515:216-221.
4. De Rubeis S, He X, Goldberg AP, et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature 2014; 515:209-215.
5. Risch N, Hoffmann TJ, Anderson M, et al. Familial recurrence of autism spectrum disorder: evaluating genetic and environmental contributions. Am J Psychiatry 2014; 171:1206-1213.
6. Ozonoff S, Young GS, Carter A, et al. Recurrence risk for autism spectrum disorders: a Baby Siblings Research Consortium study. Pediatrics 2011; 128:e488-e495.
7. Constantino JN, Todorov A, Hilton C, et al. Autism recurrence in half siblings: strong support for genetic mechanisms of transmission in ASD. Mol Psychiatry 2013; 18:137-138.
8. Constantino JN, Zhang Y, Frazier T, et al. Sibling recurrence and the genetic epidemiology of autism. Am J Psychiatry 2010; 167:1349-1356.
9. Sullivan PF, Magnusson C, Reichenberg A, et al. Family history of schizophrenia and bipolar disorder as risk factors for autism. Arch Gen Psychiatry 2012; 69:1099-1103.
10. Yang J, Lee SH, Goddard ME, Visscher PM. GCTA: a tool for genome-wide complex trait analysis. Am J Hum Genet 2011; 88:76-82.
11. Bulik-Sullivan BK, Loh PR, Finucane HK, et al. LD score regression distin-guishes confounding from polygenicity in genome-wide association studies. Nat Genet 2015; 47:291-295.
12. Lee SH, Ripke S, Neale BM, et al. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet 2013; 45:984-994.
13. Schizophrenia Working Group of the Psychiatric Genomics Consortium. Biological insights from 108 schizophrenia-associated genetic loci. Nature 2014; 511:421-427.
14. Bulik-Sullivan BK, Finucane HK, Anttila V, et al. An atlas of genetic correlations across human diseases and traits. bioRxiv 2015; doi: http://dx.doi.org/10.1101/014498. [Epub ahead of print]
15. Smoller JW, Craddock N, Kendler K, et al. Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. Lancet 2013; 381:1371-1379.
16. Sebat J, Levy DL, McCarthy SE. Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders. Trends Genet 2009; 25:528-535.
17. Weiss LA, Shen Y, Korn JM, et al. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 2008; 358:667-675.
18. McCarthy SE, Makarov V, Kirov G, et al. Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet 2009; 41:1223-1227.
19. Samocha KE, Robinson EB, Sanders SJ, et al. A framework for the inter-pretation of de novo mutation in human disease. Nat Genet 2014.
20. Sullivan PF, Daly MJ, O'Donovan M. Genetic architectures of psychiatric disorders: the emerging picture and its implications. Nat Rev Genet 2012; 13:537-551.
21. Iossifov I, Ronemus M, Levy D, et al. De-novo gene disruptions in children on the autistic spectrum. Neuron 2012; 74:285-299.
22. Sanders SJ, Murtha MT, Gupta AR, et al. De-novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 2012; 485:237-241.
23. Neale BM, Kou Y, Liu L, et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 2012; 485:242-245.
24. Kong A, Frigge ML, Masson G, et al. Rate of de novo mutations and the importance of father's age to disease risk. Nature 2012; 488:471-475.
25. Krumm N, Turner TN, Baker C, et al. Excess of rare, inherited truncating mutations in autism. Nat Genet 2015; 47:582-588.
26. Name M, Fitzgerald TW, Gerety SS, Jones WD, et al. Deciphering developmental disorders large-scale discovery of novel genetic causes of developmental disorders. Nature 2015; 519:223-228.
27. Sanders SJ, Ercan-Sencicek AG, Hus V, et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 2011; 70:863-885.
28. Stein JL, Parikshak NN, Geschwind DH. Rare inherited variation in autism: beginning to see the forest and a few trees. Neuron 2013; 77:209-211.
29. Lim ET, Raychaudhuri S, Sanders SJ, et al. Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron 2013; 77:235-242.
30. King M, Bearman P. Diagnostic change and the increased prevalence of autism. Int J Epidemiol 2009; 38:1224-1234.
31. Fombonne E. Epidemiological surveys of pervasive developmental disorders. In: Volkmar F, editor. Autism and pervasive developmental disoders. Cambridge, UK: Cambridge University Press; 2007.
32. Fombonne E. Epidemiology of autistic disorder and other pervasive developmental disorders. J Clin Psychiatry 2005; 66:3-8.
33. CDC (2014) Prevalence of autism spectrum disorders: Autism and Developmental Disabilities Monitoring Network, 11 sites, United States, 2010. MMWR Surveill Summ 63(2):1-22.
34. Robinson EB, Samocha KE, Kosmicki JA, et al. Autism spectrum disorder severity reflects the average contribution of de novo and familial influences. Proceedings of the National Academy of Sciences of the United States of America 2014.
35. Chaste P, Klei L, Sanders SJ, et al. A genome-wide association study of autism using the Simons Simplex Collection: does reducing phenotypic heterogeneity in autism increase genetic homogeneity? Biol Psychiatry 2015; 77:775-784.
36. Ronemus M, Iossifov I, Levy D, Wigler M. The role of de-novo mutations in the genetics of autism spectrum disorders. Nat Rev Genet 2014; 15:133-141.
37. Purcell SM, Moran JL, Fromer M, et al. A polygenic burden of rare disruptive mutations in schizophrenia. Nature 2014; 506:185-190.
38. Fromer M, Pocklington AJ, Kavanagh DH, et al. De novo mutations in schizophrenia implicate synaptic networks. Nature 2014; 506:179-184.
39. Moreno-De-Luca A, Evans DW, Boomer KB, et al. The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions. JAMA Psychiatry 2015; 72:119-126.
40. Hanson E, Bernier R, Porche K, et al. The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population. Biol Psychiatry 2015; 77:785-793.
41. Bernier R, Golzio C, Xiong B, et al. Disruptive CHD8 mutations define a subtype of autism early in development. Cell 2014; 158:263-276.
42. O'Roak BJ, Vives L, Girirajan S, et al. Sporadic autism exomes reveal a highly interconnected protein networkofde-novo mutations. Nature 2012; 485:246-250.