Recent developments in the genetics of autism spectrum disorders

Current Opinion in Genetics and Development

Volumn 23, Issue 3, 2013, Pages 310-315

  Murdoch, John D ^a   State, Matthew W ^a,b  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

2 OXOISOVALERATE DEHYDROGENASE (LIPOAMIDE); BRANCHED CHAIN AMINO ACID; NEUREXIN; NEUROLIGIN; SODIUM CHANNEL NAV1.2;

AUTISM; BCKDK GENE; BIOLOGICAL ACTIVITY; COPY NUMBER VARIATION; EPILEPSY; GENE MAPPING; GENETIC HETEROGENEITY; GENETIC RISK; GENETIC VARIABILITY; HUMAN; INTELLECTUAL IMPAIRMENT; LANGUAGE DISABILITY; NLGN4X GENE; NONHUMAN; PATHOPHYSIOLOGY; PEDIGREE ANALYSIS; POINT MUTATION; PRIORITY JOURNAL; REVIEW; SCHIZOPHRENIA; SOCIAL DISABILITY;

CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; EPILEPSY; GENETIC HETEROGENEITY; GENOME, HUMAN; HUMANS; INTELLECTUAL DISABILITY; MUTATION; PHENOTYPE; SCHIZOPHRENIA; SEQUENCE ANALYSIS, DNA;

EID: 84879883914     PISSN: 0959437X     EISSN: 18790380     Source Type: Journal    
DOI: 10.1016/j.gde.2013.02.003     Document Type: Review

References (48)

1. Diagnostic and statistical manual of mental disorders (4th edn., text rev.) 2000, American Psychiatric Association, American Psychiatric Publishing, Washington, DC.
2. Folstein S., Rutter M. Infantile autism: a genetic study of 21 twin pairs. J Child Psychol Psychiatry 1977, 18:297-321.
3. Morrow E.M., Yoo S.Y., Flavell S.W., Kim T.K., Lin Y., Hill R.S., Mukaddes N.M., Balkhy S., Gascon G., Hashmi A., Al-Saad S., et al. Identifying autism loci and genes by tracing recent shared ancestry. Science 2008, 321:218-223.
4. Novarino G., El-Fishawy P., Kayserili H., Meguid N.A., Scott E.M., Schroth J., Silhavy J.L., Kara M., Khalil R.O., Ben-Omran T., et al. Mutations in bckd-kinase lead to a potentially treatable form of autism with epilepsy. Science 2012, 338:394-397.
5. Strauss K.A., Puffenberger E.G., Huentelman M.J., Gottlieb S., Dobrin S.E., Parod J.M., Stephan D.A., Morton D.H. Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. N Engl J Med 2006, 354:1370-1377.
6. Klei L., Sanders S.J., Murtha M.T., Hus V., Lowe J.K., Willsey A.J., Moreno-De-Luca D., Yu T.W., Fombonne E., Geschwind D., et al. Common genetic variants, acting additively, are a major source of risk for autism. Mol Autism 2012, 3:9.
7. Gadalla K.K., Bailey M.E., Cobb S.R. Mecp2 and rett syndrome: reversibility and potential avenues for therapy. Biochem J 2011, 439:1-14.
8. Jamain S., Quach H., Betancur C., Rastam M., Colineaux C., Gillberg I.C., Soderstrom H., Giros B., Leboyer M., Gillberg C., Bourgeron T. Mutations of the x-linked genes encoding neuroligins nlgn3 and nlgn4 are associated with autism. Nat Genet 2003, 34:27-29.
9. Sudhof T.C. Neuroligins and neurexins link synaptic function to cognitive disease. Nature 2008, 455:903-911.
10. Thomas N.S., Sharp A.J., Browne C.E., Skuse D., Hardie C., Dennis N.R. Xp deletions associated with autism in three females. Hum Genet 1999, 104:43-48.
11. Laumonnier F., Bonnet-Brilhault F., Gomot M., Blanc R., David A., Moizard M.P., Raynaud M., Ronce N., Lemonnier E., Calvas P., et al. X-linked mental retardation and autism are associated with a mutation in the nlgn4 gene, a member of the neuroligin family. Am J Hum Genet 2004, 74:552-557.
12. Tabuchi K., Blundell J., Etherton M.R., Hammer R.E., Liu X., Powell C.M., Sudhof T.C. A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice. Science 2007, 318:71-76.
13. Zoghbi H.Y. Postnatal neurodevelopmental disorders: meeting at the synapse?. Science 2003, 302:826-830.
14. State M.W., Sestan N. Neuroscience. The emerging biology of autism spectrum disorders. Science 2012, 337:1301-1303.
15. Szatmari P., Paterson A.D., Zwaigenbaum L., Roberts W., Brian J., Liu X.Q., Vincent J.B., Skaug J.L., Thompson A.P., Senman L., et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 2007, 39:319-328.
16. Feng J., Schroer R., Yan J., Song W., Yang C., Bockholt A., Cook E.H., Skinner C., Schwartz C.E., Sommer S.S. High frequency of neurexin 1beta signal peptide structural variants in patients with autism. Neurosci Lett 2006, 409:10-13.
17. Kim H.G., Kishikawa S., Higgins A.W., Seong I.S., Donovan D.J., Shen Y., Lally E., Weiss L.A., Najm J., Kutsche K., et al. Disruption of neurexin 1 associated with autism spectrum disorder. Am J Hum Genet 2008, 82:199-207.
18. Yan J., Noltner K., Feng J., Li W., Schroer R., Skinner C., Zeng W., Schwartz C.E., Sommer S.S. Neurexin 1alpha structural variants associated with autism. Neurosci Lett 2008, 438:368-370.
19. Sebat J., Lakshmi B., Malhotra D., Troge J., Lese-Martin C., Walsh T., Yamrom B., Yoon S., Krasnitz A., Kendall J., et al. Strong association of de novo copy number mutations with autism. Science 2007, 316:445-449.
20. Marshall C.R., Noor A., Vincent J.B., Lionel A.C., Feuk L., Skaug J., Shago M., Moessner R., Pinto D., Ren Y., et al. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 2008, 82:477-488.
21. Kumar R.A., KaraMohamed S., Sudi J., Conrad D.F., Brune C., Badner J.A., Gilliam T.C., Nowak N.J., Cook E.H., Dobyns W.B., Christian S.L. Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet 2008, 17:628-638.
22. Weiss L.A., Shen Y., Korn J.M., Arking D.E., Miller D.T., Fossdal R., Saemundsen E., Stefansson H., Ferreira M.A., Green T., et al. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 2008, 358:667-675.
23. Arking D.E., Cutler D.J., Brune C.W., Teslovich T.M., West K., Ikeda M., Rea A., Guy M., Lin S., Cook E.H., Chakravarti A. A common genetic variant in the neurexin superfamily member cntnap2 increases familial risk of autism. Am J Hum Genet 2008, 82:160-164.
24. Bakkaloglu B., O'Roak B.J., Louvi A., Gupta A.R., Abelson J.F., Morgan T.M., Chawarska K., Klin A., Ercan-Sencicek A.G., Stillman A.A., et al. Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am J Hum Genet 2008, 82:165-173.
25. Alarcon M., Abrahams B.S., Stone J.L., Duvall J.A., Perederiy J.V., Bomar J.M., Sebat J., Wigler M., Martin C.L., Ledbetter D.H., et al. Linkage, association, and gene-expression analyses identify cntnap2 as an autism-susceptibility gene. Am J Hum Genet 2008, 82:150-159.
26. Wang K., Zhang H., Ma D., Bucan M., Glessner J.T., Abrahams B.S., Salyakina D., Imielinski M., Bradfield J.P., Sleiman P.M., et al. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 2009, 459:528-533.
27. Weiss L.A., Arking D.E., Daly M.J., Chakravarti A. A genome-wide linkage and association scan reveals novel loci for autism. Nature 2009, 461:802-808.
28. Anney R., Klei L., Pinto D., Regan R., Conroy J., Magalhaes T.R., Correia C., Abrahams B.S., Sykes N., Pagnamenta A.T., et al. A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet 2010, 19:4072-4082.
29. Campbell D.B., Li C., Sutcliffe J.S., Persico A.M., Levitt P. Genetic evidence implicating multiple genes in the met receptor tyrosine kinase pathway in autism spectrum disorder. Autism Res 2008, 1:159-168.
30. Campbell D.B., Sutcliffe J.S., Ebert P.J., Militerni R., Bravaccio C., Trillo S., Elia M., Schneider C., Melmed R., Sacco R., et al. A genetic variant that disrupts met transcription is associated with autism. Proc Natl Acad Sci U S A 2006, 103:16834-16839.
31. Sousa I., Clark T.G., Toma C., Kobayashi K., Choma M., Holt R., Sykes N.H., Lamb J.A., Bailey A.J., Battaglia A., et al. Met and autism susceptibility: family and case-control studies. Eur J Hum Genet 2009, 17:749-758.
32. Jackson P.B., Boccuto L., Skinner C., Collins J.S., Neri G., Gurrieri F., Schwartz C.E. Further evidence that the rs1858830 c variant in the promoter region of the met gene is associated with autistic disorder. Autism Res 2009, 2:232-236.
33. Benayed R., Gharani N., Rossman I., Mancuso V., Lazar G., Kamdar S., Bruse S.E., Tischfield S., Smith B.J., Zimmerman R.A., et al. Support for the homeobox transcription factor gene engrailed 2 as an autism spectrum disorder susceptibility locus. Am J Hum Genet 2005, 77:851-868.
34. Devlin B., Melhem N., Roeder K. Do common variants play a role in risk for autism? Evidence and theoretical musings. Brain Res 2011, 1380:78-84.
35. Ripke S., Sanders A.R., Kendler K.S., Levinson D.F., Sklar P., Holmans Pa., Lin D.Y., Duan J., Ophoff R.A., Andreassen O.A., et al. Genome-wide association study identifies five new schizophrenia loci. Nat Genet 2011, 43:969-976.
36. Levy D., Ronemus M., Yamrom B., Lee Y.H., Leotta A., Kendall J., Marks S., Lakshmi B., Pai D., Ye K., et al. Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Neuron 2011, 70:886-897.
37. Sanders S.J., Ercan-Sencicek A.G., Hus V., Luo R., Murtha M.T., Moreno-De-Luca D., Chu S.H., Moreau M.P., Gupta A.R., Thomson S.A., 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.
38. Fischbach G.D., Lord C. The Simons simplex collection: a resource for identification of autism genetic risk factors. Neuron 2010, 68:192-195.
39. Moreno-De-Luca D, Sanders SJ, Willsey AJ, Mulle JG, Lowe JK, Geschwind DH, State MW, Martin CL, Ledbetter DH: Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts. Mol Psychiatry 2012, [Epub ahead of print] PMID: 23044707. doi:10.1038/mp.2012.138.
40. Moreno-De-Luca D., Mulle J.G., Kaminsky E.B., Sanders S.J., Myers S.M., Adam M.P., Pakula A.T., Eisenhauer N.J., Uhas K., Weik L., et al. Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. Am J Hum Genet 2010, 87:618-630.
41. Malhotra D., Sebat J. CNVs: Harbingers of a rare variant revolution in psychiatric genetics. Cell 2012, 148:1223-1241.
42. O'Roak B.J., Deriziotis P., Lee C., Vives L., Schwartz J.J., Girirajan S., Karakoc E., Mackenzie A.P., Ng S.B., Baker C., et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet 2011, 43:585-589.
43. Sanders S.J., Murtha M.T., Gupta A.R., Murdoch J.D., Raubeson M.J., Willsey A.J., Ercan-Sencicek A.G., DiLullo N.M., Parikshak N.N., Stein J.L., et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 2012, 485:237-241.
44. Neale B.M., Kou Y., Liu L., Ma'ayan A., Samocha K.E., Sabo A., Lin C.F., Stevens C., Wang L.S., Makarov V., et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 2012, 485:242-245.
45. O'Roak B.J., Vives L., Girirajan S., Karakoc E., Krumm N., Coe B.P., Levy R., Ko A., Lee C., Smith J.D., et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 2012, 485:246-250.
46. Iossifov I., Ronemus M., Levy D., Wang Z., Hakker I., Rosenbaum J., Yamrom B., Lee Y.H., Narzisi G., Leotta A., et al. De novo gene disruptions in children on the autistic spectrum. Neuron 2012, 74:285-299.
47. Itsara A., Wu H., Smith J.D., Nickerson D.A., Romieu I., London S.J., Eichler E.E. De novo rates and selection of large copy number variation. Genome Res 2010, 20:1469-1481.
48. Pinto D., Pagnamenta A.T., Klei L., Anney R., Merico D., Regan R., Conroy J., Magalhaes T.R., Correia C., Abrahams B.S., et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010, 466:368-372.