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The Genetic Basis of Autism Spectrum Disorder

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Translational Approaches to Autism Spectrum Disorder

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Abstract

Autism spectrum disorder (ASD) is multifactorial and complex condition, with a marked genetic influence, as evidenced by the high heritability (around 80–90 %). Additionally, both common and rare genetic variants have an influence on the etiology and development. Several genetic syndromes are described in ASD, and they are present in approximately 10 % of cases. Different genetic approaches are described in studies with ASD samples. Linkage studies mainly identify regions in chromosomes 2 and 7 which are involved in ASD. Genetic association studies, which aim to identify genes or genomic regions influencing ASD, involve the analysis of candidate genes or genome scan. The genes analyzed in these studies encode components related to neurotransmitter metabolism, neural migration, neuronal cell adhesion, apoptosis, and cell proliferation. Other methodologies have been used to complement genetic investigations, for example, exome and copy number variation (CNV) studies. Epigenetic studies indicate an important environmental influence on these disorders. The genetic evaluation of all patients with ASD is now required due to recent advances in knowledge regarding the genetic factors involved in the etiology of autism. Definitions of key terms and concepts used throughout this chapter are presented in Fig. 3.1.

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References

  • Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA (2012) An integrated map of genetic variation from 1092 human genomes. Nature 491(7422):56–65. doi:10.1038/nature11632

    Article  PubMed  Google Scholar 

  • Abrahams BS, Geschwind DH (2008) Advances in autism genetics: on the threshold of a new neurobiology. Nature Rev Genet 9(5):341–355. doi:10.1038/nrg2346

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Sykes N, Pagnamenta AT, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bolte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Carson AR, Casallo G, Casey J, Chu SH, Cochrane L, Corsello C, Crawford EL, Crossett A, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Melhem NM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Piven J, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wang Z, Wassink TH, Wing K, Wittemeyer K, Wood S, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Betancur C, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Gallagher L, Geschwind DH, Gill M, Haines JL, Miller J, Monaco AP, Nurnberger JI Jr, Paterson AD, Pericak-Vance MA, Schellenberg GD, Scherer SW, Sutcliffe JS, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Devlin B, Ennis S, Hallmayer J (2010) A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet 19(20):4072–4082. doi:10.1093/hmg/ddq307

    Google Scholar 

  • Anney R, Klei L, Pinto D, Almeida J, Bacchelli E, Baird G, Bolshakova N, Bolte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Casey J, Conroy J, Correia C, Corsello C, Crawford EL, de Jonge M, Delorme R, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Gilbert J, Gillberg C, Glessner JT, Green A, Green J, Guter SJ, Heron EA, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Jacob S, Kenny GP, Kim C, Kolevzon A, Kustanovich V, Lajonchere CM, Lamb JA, Law-Smith M, Leboyer M, Le Couteur A, Leventhal BL, Liu XQ, Lombard F, Lord C, Lotspeich L, Lund SC, Magalhaes TR, Mantoulan C, McDougle CJ, Melhem NM, Merikangas A, Minshew NJ, Mirza GK, Munson J, Noakes C, Nygren G, Papanikolaou K, Pagnamenta AT, Parrini B, Paton T, Pickles A, Posey DJ, Poustka F, Ragoussis J, Regan R, Roberts W, Roeder K, Roge B, Rutter ML, Schlitt S, Shah N, Sheffield VC, Soorya L, Sousa I, Stoppioni V, Sykes N, Tancredi R, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Vorstman JA, Wallace S, Wing K, Wittemeyer K, Wood S, Zurawiecki D, Zwaigenbaum L, Bailey AJ, Battaglia A, Cantor RM, Coon H, Cuccaro ML, Dawson G, Ennis S, Freitag CM, Geschwind DH, Haines JL, Klauck SM, McMahon WM, Maestrini E, Miller J, Monaco AP, Nelson SF, Nurnberger JI Jr, Oliveira G, Parr JR, Pericak-Vance MA, Piven J, Schellenberg GD, Scherer SW, Vicente AM, Wassink TH, Wijsman EM, Betancur C, Buxbaum JD, Cook EH, Gallagher L, Gill M, Hallmayer J, Paterson AD, Sutcliffe JS, Szatmari P, Vieland VJ, Hakonarson H, Devlin B (2012) Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Human Mol Genet 21(21):4781–4792. doi:10.1093/hmg/dds301

    Google Scholar 

  • Ashley-Koch AE, Jaworski J, Ma de Q, Mei H, Ritchie MD, Skaar DA, Robert Delong G, Worley G, Abramson RK, Wright HH, Cuccaro ML, Gilbert JR, Martin ER, Pericak-Vance MA (2007) Investigation of potential gene-gene interactions between APOE and RELN contributing to autism risk. Psychiatr Genet 17(4):221–226. doi:10.1097/YPG.0b013e32809c2f75

    Article  PubMed  Google Scholar 

  • Baader SL, Sanlioglu S, Berrebi AS, Parker-Thornburg J, Oberdick J (1998) Ectopic overexpression of engrailed-2 in cerebellar Purkinje cells causes restricted cell loss and retarded external germinal layer development at lobule junctions. J Neurosci 18(5):1763–1773

    CAS  PubMed  Google Scholar 

  • Betancur C (2011) Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res 1380:42–77. doi:10.1016/j.brainres.2010.11.078

    Article  CAS  PubMed  Google Scholar 

  • Bi C, Wu J, Jiang T, Liu Q, Cai W, Yu P, Cai T, Zhao M, Jiang YH, Sun ZS (2012) Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility. Hum Mutat 33(12):1635–1638. doi:10.1002/humu.22174

    Article  CAS  PubMed  Google Scholar 

  • Bonora E, Lamb JA, Barnby G, Sykes N, Moberly T, Beyer KS, Klauck SM, Poustka F, Bacchelli E, Blasi F, Maestrini E, Battaglia A, Haracopos D, Pedersen L, Isager T, Eriksen G, Viskum B, Sorensen EU, Brondum-Nielsen K, Cotterill R, Engeland H, Jonge M, Kemner C, Steggehuis K, Scherpenisse M, Rutter M, Bolton PF, Parr JR, Poustka A, Bailey AJ, Monaco AP (2005) Mutation screening and association analysis of six candidate genes for autism on chromosome 7q. Eur J Hum Genet 13(2):198–207. doi:10.1038/sj.ejhg.5201315

    Article  CAS  PubMed  Google Scholar 

  • Brock M, Hatton D (2010) Distinguishing features of autism in boys with fragile X syndrome. J Intellect Disabil Res 54(10):894–905. doi:10.1111/j.1365–2788.2010.01315.x

    Article  CAS  PubMed  Google Scholar 

  • Brune CW, Kim SJ, Salt J, Leventhal BL, Lord C, Cook EH Jr (2006) 5-HTTLPR Genotype-specific phenotype in children and adolescents with autism. Am J Psychiatry 163(12):2148–2156. doi:10.1176/appi.ajp.163.12.2148

    Article  PubMed  Google Scholar 

  • Buxbaum JD, Silverman JM, Smith CJ, Greenberg DA, Kilifarski M, Reichert J, Cook EH Jr, Fang Y, Song CY, Vitale R (2002) Association between a GABRB3 polymorphism and autism. Mol Psychiatry 7(3):311–316. doi:10.1038/sj.mp.4001011

    Article  CAS  PubMed  Google Scholar 

  • Castro J, Mellios N, Sur M (2013) Mechanisms and therapeutic challenges in autism spectrum disorders: insights from Rett syndrome. Curr Opin Neurol 26(2):154–159. doi:10.1097/WCO.0b013e32835f19a7

    Article  CAS  PubMed  Google Scholar 

  • Chahrour M, Jung SY, Shaw C, Zhou X, Wong ST, Qin J, Zoghbi HY (2008) MeCP2, a key contributor to neurological disease, activates and represses transcription. Science 320(5880):1224–1229. doi:10.1126/science.1153252

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Chandana SR, Behen ME, Juhasz C, Muzik O, Rothermel RD, Mangner TJ, Chakraborty PK, Chugani HT, Chugani DC (2005) Significance of abnormalities in developmental trajectory and asymmetry of cortical serotonin synthesis in autism. Int J Dev Neurosci 23(2–3):171–182. doi:10.1016/j.ijdevneu.2004.08.002

    Article  CAS  PubMed  Google Scholar 

  • Chavis P, Westbrook G (2001) Integrins mediate functional pre- and postsynaptic maturation at a hippocampal synapse. Nature 411(6835):317–321. doi:10.1038/35077101

    Article  CAS  PubMed  Google Scholar 

  • Cook EH, Leventhal BL (1996) The serotonin system in autism. Curr Opin Pediatr 8(4):348–354

    Article  CAS  PubMed  Google Scholar 

  • Coutinho AM, Sousa I, Martins M, Correia C, Morgadinho T, Bento C, Marques C, Ataide A, Miguel TS, Moore JH, Oliveira G, Vicente AM (2007) Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels. Hum Genet 121(2):243–256. doi:10.1007/s00439-006-0301-3

    Article  CAS  PubMed  Google Scholar 

  • Curran S, Powell J, Neale BM, Dworzynski K, Li T, Murphy D, Bolton PF (2006) An association analysis of candidate genes on chromosome 15 q11-13 and autism spectrum disorder. Mol Psychiatry 11(8):709–713. doi:10.1038/sj.mp.4001839 (England)

    Google Scholar 

  • Darnell JC, Van Driesche SJ, Zhang C, Hung KY, Mele A, Fraser CE, Stone EF, Chen C, Fak JJ, Chi SW, Licatalosi DD, Richter JD, Darnell RB (2011) FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism. Cell 146(2):247–261. doi:10.1016/j.cell.2011.06.013

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Di Napoli A, Warrier V, Baron-Cohen S, Chakrabarti B (2014) Genetic variation in the oxytocin receptor (OXTR) gene is associated with Asperger syndrome. Mol Autism 5(1):48. doi:10.1186/2040-2392-5-48

    Article  PubMed Central  PubMed  Google Scholar 

  • Durdiakova J, Warrier V, Baron-Cohen S, Chakrabarti B (2014) Single nucleotide polymorphism rs6716901 in SLC25A12 gene is associated with Asperger syndrome. Mol Autism 5(1):25. doi:10.1186/2040-2392-5-25

    Article  PubMed Central  PubMed  Google Scholar 

  • Ebstein RP, Israel S, Lerer E, Uzefovsky F, Shalev I, Gritsenko I, Riebold M, Salomon S, Yirmiya N (2009) Arginine vasopressin and oxytocin modulate human social behavior. Ann N Y Acad Sci 1167:87–102. doi:10.1111/j.1749-6632.2009.04541.x

    Article  CAS  PubMed  Google Scholar 

  • Eley TC, Rijsdijk F (2005) Introductory guide to the statistics of molecular genetics. J Child Psychol Psychiatry 46(10):1042–1044. doi:10.1111/j.1469-7610.2005.01523.x

    Article  PubMed  Google Scholar 

  • Fatemi SH, Earle JA, McMenomy T (2000) Reduction in Reelin immunoreactivity in hippocampus of subjects with schizophrenia, bipolar disorder and major depression. Mol Psychiatry 5(6):654–663, 571

    Article  CAS  PubMed  Google Scholar 

  • Feldman R, Weller A, Zagoory-Sharon O, Levine A (2007) Evidence for a neuroendocrinological foundation of human affiliation: plasma oxytocin levels across pregnancy and the postpartum period predict mother-infant bonding. Psychol Sci 18(11):965–970. doi:10.1111/j.1467-9280.2007.02010.x

    Article  PubMed  Google Scholar 

  • Fombonne E (2003) Epidemiological surveys of autism and other pervasive developmental disorders: an update. J Autism Dev Disord 33(4):365–382

    Article  PubMed  Google Scholar 

  • Fradin D, Cheslack-Postava K, Ladd-Acosta C, Newschaffer C, Chakravarti A, Arking DE, Feinberg A, Fallin MD (2010) Parent-of-origin effects in autism identified through genome-wide linkage analysis of 16,000 SNPs. PloS ONE 5(9). doi:10.1371/journal.pone.0012513

    Google Scholar 

  • Freitag CM, Staal W, Klauck SM, Duketis E, Waltes R (2010) Genetics of autistic disorders: review and clinical implications. Eur Child Adolesc Psychiatry 19(3):169–178. doi:10.1007/s00787-009-0076-x

    Article  PubMed Central  PubMed  Google Scholar 

  • Ghosh A, Michalon A, Lindemann L, Fontoura P, Santarelli L (2013) Drug discovery for autism spectrum disorder: challenges and opportunities. Nat Rev Drug Discov 12(10):777–790. doi:10.1038/nrd4102

    Article  CAS  PubMed  Google Scholar 

  • Gipson TT, Gerner G, Wilson MA, Blue ME, Johnston MV (2013) Potential for treatment of severe autism in tuberous sclerosis complex. World J Clin Pediatr 2(3):16–25. doi:10.5409/wjcp.v2.i3.16

    Article  PubMed Central  PubMed  Google Scholar 

  • Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S, Zhang H, Estes A, Brune CW, Bradfield JP, Imielinski M, Frackelton EC, Reichert J, Crawford EL, Munson J, Sleiman PM, Chiavacci R, Annaiah K, Thomas K, Hou C, Glaberson W, Flory J, Otieno F, Garris M, Soorya L, Klei L, Piven J, Meyer KJ, Anagnostou E, Sakurai T, Game RM, Rudd DS, Zurawiecki D, McDougle CJ, Davis LK, Miller J, Posey DJ, Michaels S, Kolevzon A, Silverman JM, Bernier R, Levy SE, Schultz RT, Dawson G, Owley T, McMahon WM, Wassink TH, Sweeney JA, Nurnberger JI, Coon H, Sutcliffe JS, Minshew NJ, Grant SF, Bucan M, Cook EH, Buxbaum JD, Devlin B, Schellenberg GD, Hakonarson H (2009) Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 459(7246):569–573. doi:10.1038/nature07953

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Gupta AR, State MW (2006) [Autism: genetics]. Rev Bras Psiquiatr 28 (Suppl 1):S29–S38. doi:/S1516-44462006000500005

    Article  PubMed  Google Scholar 

  • Hall L, Kelley E (2014) The contribution of epigenetics to understanding genetic factors in autism. Autism 18(8):872–881. doi:10.1177/1362361313503501

    Article  PubMed  Google Scholar 

  • Hallmayer J, Cleveland S, Torres A, Phillips J, Cohen B, Torigoe T, Miller J, Fedele A, Collins J, Smith K, Lotspeich L, Croen LA, Ozonoff S, Lajonchere C, Grether JK, Risch N (2011) Genetic heritability and shared environmental factors among twin pairs with autism. Arch Gen Psychiatry 68(11):1095–1102. doi:10.1001/archgenpsychiatry.2011.76

    Article  PubMed Central  PubMed  Google Scholar 

  • Hedrick A, Lee Y, Wallace GL, Greenstein D, Clasen L, Giedd JN, Raznahan A (2012) Autism risk gene MET variation and cortical thickness in typically developing children and adolescents. Autism Res 5(6):434–439. doi:10.1002/aur.1256

    Article  PubMed Central  PubMed  Google Scholar 

  • Hollander E, Kaplan A, Schmeidler J, Yang H, Li D, Koran LM, Barbato LM (2005) Neurological soft signs as predictors of treatment response to selective serotonin reuptake inhibitors in obsessive-compulsive disorder. J Neuropsychiatry Clin Neurosci 17(4):472–477. doi:10.1176/appi.neuropsych.17.4.472

    Article  CAS  PubMed  Google Scholar 

  • Hong SE, Shugart YY, Huang DT, Shahwan SA, Grant PE, Hourihane JO, Martin ND, Walsh CA (2000) Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet 26(1):93–96. doi:10.1038/79246

    Article  CAS  PubMed  Google Scholar 

  • Huang CH, Santangelo SL (2008) Autism and serotonin transporter gene polymorphisms: a systematic review and meta-analysis. Am J Med Genet B Neuropsychiatr Genet 147B(6):903–913. doi:10.1002/ajmg.b.30720

    Article  PubMed  Google Scholar 

  • Iossifov I, Ronemus M, Levy D, Wang Z, Hakker I, Rosenbaum J, Yamrom B, Lee YH, Narzisi G, Leotta A, Kendall J, Grabowska E, Ma B, Marks S, Rodgers L, Stepansky A, Troge J, Andrews P, Bekritsky M, Pradhan K, Ghiban E, Kramer M, Parla J, Demeter R, Fulton LL, Fulton RS, Magrini VJ, Ye K, Darnell JC, Darnell RB, Mardis ER, Wilson RK, Schatz MC, McCombie WR, Wigler M (2012) De novo gene disruptions in children on the autistic spectrum. Neuron 74(2):285–299. doi:10.1016/j.neuron.2012.04.009

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Jamain S, Betancur C, Quach H, Philippe A, Fellous M, Giros B, Gillberg C, Leboyer M, Bourgeron T (2002) Linkage and association of the glutamate receptor 6 gene with autism. Mol Psychiatry 7(3):302–310. doi:10.1038/sj.mp.4000979

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Jones RM, Cadby G, Melton PE, Abraham LJ, Whitehouse AJ, Moses EK (2013) Genome-wide association study of autistic-like traits in a general population study of young adults. Front Hum Neurosci 7:658. doi:10.3389/fnhum.2013.00658

    Article  PubMed Central  PubMed  Google Scholar 

  • Kim SA, Kim JH, Park M, Cho IH, Yoo HJ (2007) Family-based association study between GRIK2 polymorphisms and autism spectrum disorders in the Korean trios. Neurosci Res 58(3):332–335. doi:10.1016/j.neures.2007.03.002

    Article  CAS  PubMed  Google Scholar 

  • Kishi N, Macklis JD (2005) Dissecting MECP2 function in the central nervous system. J Child Neurol 20(9):753–759

    Article  PubMed  Google Scholar 

  • Kothare SV, Singh K, Hochman T, Chalifoux JR, Staley BA, Weiner HL, Menzer K, Devinsky O (2014) Genotype/phenotype in tuberous sclerosis complex: associations with clinical and radiologic manifestations. Epilepsia 55(7):1020–1024. doi:10.1111/epi.12627

    Article  PubMed  Google Scholar 

  • Kuemerle B, Zanjani H, Joyner A, Herrup K (1997) Pattern deformities and cell loss in Engrailed-2 mutant mice suggest two separate patterning events during cerebellar development. J Neurosci 17(20):7881–7889

    CAS  PubMed  Google Scholar 

  • Levy SE, Mandell DS, Schultz RT (2009) Autism. Lancet 374(9701):1627–1638. doi:10.1016/S0140-6736(09)61376-3

    Article  PubMed Central  PubMed  Google Scholar 

  • Levy D, Ronemus M, Yamrom B, Lee YH, Leotta A, Kendall J, Marks S, Lakshmi B, Pai D, Ye K, Buja A, Krieger A, Yoon S, Troge J, Rodgers L, Iossifov I, Wigler M (2011) Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Neuron 70(5):886–897 doi:10.1016/j.neuron.2011.05.015

    Google Scholar 

  • Li H, Li Y, Shao J, Li R, Qin Y, Xie C, Zhao Z (2008) The association analysis of RELN and GRM8 genes with autistic spectrum disorder in Chinese Han population. Am J Med Genet B Neuropsychiatr Genet 147b(2):194–200. doi:10.1002/ajmg.b.30584

    Article  CAS  PubMed  Google Scholar 

  • Liu X, Takumi T (2014) Genomic and genetic aspects of autism spectrum disorder. Biochem Biophys Res Commun 452(2):244–253. doi:10.1016/j.bbrc.2014.08.108

    Article  CAS  PubMed  Google Scholar 

  • Liu XQ, Paterson AD, Szatmari P (2008) Genome-wide linkage analyses of quantitative and categorical autism subphenotypes. Biol Psychiatry 64(7):561–570. doi:10.1016/j.biopsych.2008.05.023

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • LoParo D, Waldman ID (2014) The oxytocin receptor gene (OXTR) is associated with autism spectrum disorder: a meta-analysis. Mol Psychiatry. doi:10.1038/mp.2014.77

    Google Scholar 

  • Lugo JN, Smith GD, Arbuckle EP, White J, Holley AJ, Floruta CM, Ahmed N, Gomez MC, Okonkwo O (2014) Deletion of PTEN produces autism-like behavioral deficits and alterations in synaptic proteins. Front Mol Neurosci 7:27. doi:10.3389/fnmol.2014.00027

    Article  PubMed Central  PubMed  Google Scholar 

  • Lv JW, Cheng TL, Qiu ZL, Zhou WH (2013) Role of the PTEN signaling pathway in autism spectrum disorder. Neurosci Bull 29(6):773–778. doi:10.1007/s12264-013-1382-3

    Article  CAS  PubMed  Google Scholar 

  • Ma D, Salyakina D, Jaworski JM, Konidari I, Whitehead PL, Andersen AN, Hoffman JD, Slifer SH, Hedges DJ, Cukier HN, Griswold AJ, McCauley JL, Beecham GW, Wright HH, Abramson RK, Martin ER, Hussman JP, Gilbert JR, Cuccaro ML, Haines JL, Pericak-Vance MA (2009) A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. Ann Hum Genet 73(Pt 3):263–273. doi:10.1111/j.1469-1809.2009.00523.x

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Ma DQ, Rabionet R, Konidari I, Jaworski J, Cukier HN, Wright HH, Abramson RK, Gilbert JR, Cuccaro ML, Pericak-Vance MA, Martin ER (2010) Association and gene-gene interaction of SLC6A4 and ITGB3 in autism. Am J Med Genet B Neuropsychiatr Genet 153B(2):477–483. doi:10.1002/ajmg.b.31003

    CAS  PubMed  Google Scholar 

  • Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J, Shago M, Moessner R, Pinto D, Ren Y, Thiruvahindrapduram B, Fiebig A, Schreiber S, Friedman J, Ketelaars CE, Vos YJ, Ficicioglu C, Kirkpatrick S, Nicolson R, Sloman L, Summers A, Gibbons CA, Teebi A, Chitayat D, Weksberg R, Thompson A, Vardy C, Crosbie V, Luscombe S, Baatjes R, Zwaigenbaum L, Roberts W, Fernandez B, Szatmari P, Scherer SW (2008) Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 82(2):477–488. doi:10.1016/j.ajhg.2007.12.009

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Marui T, Funatogawa I, Koishi S, Yamamoto K, Matsumoto H, Hashimoto O, Nanba E, Nishida H, Sugiyama T, Kasai K, Watanabe K, Kano Y, Sasaki T, Kato N (2009) Association of the neuronal cell adhesion molecule (NRCAM) gene variants with autism. Int J Neuropsychopharmacol 12(1):1–10. doi:10.1017/s1461145708009127

    Article  CAS  PubMed  Google Scholar 

  • Mbadiwe T, Millis RM (2013) Epigenetics and autism. Autism Res Treat 2013:826156. doi:10.1155/2013/826156

    PubMed Central  PubMed  Google Scholar 

  • McCary LM, Machlin L, Roberts JE (2013) The development of adaptive behavior in toddlers and preschoolers with fragile X versus autism. Int J Dev Disabil 59(2):67–79. doi:10.1179/2047387713y.0000000016

    Article  PubMed Central  PubMed  Google Scholar 

  • McCauley JL, Olson LM, Delahanty R, Amin T, Nurmi EL, Organ EL, Jacobs MM, Folstein SE, Haines JL, Sutcliffe JS (2004) A linkage disequilibrium map of the 1-Mb 15q12 GABA(A) receptor subunit cluster and association to autism. Am J Med Genet B Neuropsychiatr Genet 131b(1):51–59. doi:10.1002/ajmg.b.30038

    Article  PubMed  Google Scholar 

  • McClellan J, King MC (2010) Genetic heterogeneity in human disease. Cell 141(2):210–217. doi:10.1016/j.cell.2010.03.032

    Article  CAS  PubMed  Google Scholar 

  • Melnyk S, Fuchs GJ, Schulz E, Lopez M, Kahler SG, Fussell JJ, Bellando J, Pavliv O, Rose S, Seidel L, Gaylor DW, James SJ (2012) Metabolic imbalance associated with methylation dysregulation and oxidative damage in children with autism. J Autism Dev Disord 42(3):367–377. doi:10.1007/s10803-011-1260-7

    Article  PubMed Central  PubMed  Google Scholar 

  • Neale BM, Kou Y, Liu L, Ma’ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T, Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, Nagaswamy U, Muzny D, Reid JG, Newsham I, Wu Y, Lewis L, Han Y, Voight BF, Lim E, Rossin E, Kirby A, Flannick J, Fromer M, Shakir K, Fennell T, Garimella K, Banks E, Poplin R, Gabriel S, DePristo M, Wimbish JR, Boone BE, Levy SE, Betancur C, Sunyaev S, Boerwinkle E, Buxbaum JD, Cook EH Jr, Devlin B, Gibbs RA, Roeder K, Schellenberg GD, Sutcliffe JS, Daly MJ (2012) Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 485(7397):242–245. doi:10.1038/nature11011

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Newschaffer CJ, Croen LA, Daniels J, Giarelli E, Grether JK, Levy SE, Mandell DS, Miller LA, Pinto-Martin J, Reaven J, Reynolds AM, Rice CE, Schendel D, Windham GC (2007) The epidemiology of autism spectrum disorders. Annu Rev Public Health 28:235–258. doi:10.1146/annurev.publhealth.28.021406.144007

    Article  PubMed  Google Scholar 

  • O’Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, Reilly B, Akey JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J, Eichler EE (2012) Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 485(7397):246–250. doi:10.1038/nature10989

    Article  PubMed Central  PubMed  Google Scholar 

  • Oh JE, Chambwe N, Klein S, Gal J, Andrews S, Gleason G, Shaknovich R, Melnick A, Campagne F, Toth M (2013) Differential gene body methylation and reduced expression of cell adhesion and neurotransmitter receptor genes in adverse maternal environment. Transl Psychiatry 3:e218. doi:10.1038/tp.2012.130

    Article  PubMed Central  PubMed  Google Scholar 

  • Persico AM, Napolioni V (2013) Autism genetics. Behavioural brain research 251:95–112. doi:10.1016/j.bbr.2013.06.012

    Google Scholar 

  • Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E (2013) Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst 105(21):1607–1616. doi:10.1093/jnci/djt277

    Article  CAS  PubMed  Google Scholar 

  • Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bolte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Bryson SE, Carson AR, Casallo G, Casey J, Chung BH, Cochrane L, Corsello C, Crawford EL, Crossett A, Cytrynbaum C, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green A, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Pilorge M, Piven J, Ponting CP, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Sequeira AF, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Stein O, Sykes N, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wang Z, Wassink TH, Webber C, Weksberg R, Wing K, Wittemeyer K, Wood S, Wu J, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Devlin B, Ennis S, Gallagher L, Geschwind DH, Gill M, Haines JL, Hallmayer J, Miller J, Monaco AP, Nurnberger JI Jr, Paterson AD, Pericak-Vance MA, Schellenberg GD, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Scherer SW, Sutcliffe JS, Betancur C (2010) Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466(7304):368–372. doi:10.1038/nature09146

    Google Scholar 

  • Poelmans G, Franke B, Pauls DD, Glennon JC, Buitelaar J (2013) AKAPs integrate genetic findings for autism spectrum disorders. Transl Psychiatry 3(6):e270. doi:10.1038/tp.2013.48

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Ramoz N, Reichert JG, Smith CJ, Silverman JM, Bespalova IN, Davis KL, Buxbaum JD (2004) Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism. Am J Psychiatry 161(4):662–669

    Article  PubMed  Google Scholar 

  • Rangasamy S, D’Mello SR, Narayanan V (2013) Epigenetics, autism spectrum, and neurodevelopmental disorders. Neurotherapeutics 10(4):742–756. doi:10.1007/s13311-013-0227-0

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Ronald A, Hoekstra RA (2011) Autism spectrum disorders and autistic traits: a decade of new twin studies. Am J Med Genet B Neuropsychiatr Genet 156(3):255–274

    Article  Google Scholar 

  • Ronald A, Happe F, Bolton P, Butcher LM, Price TS, Wheelwright S, Baron-Cohen S, Plomin R (2006) Genetic heterogeneity between the three components of the autism spectrum: a twin study. J Am Acad Child Adolesc Psychiatry 45(6):691–699. doi:10.1097/01.chi.0000215325.13058.9d

    Article  PubMed  Google Scholar 

  • Ronald A, Butcher LM, Docherty S, Davis OS, Schalkwyk LC, Craig IW, Plomin R (2010) A genome-wide association study of social and non-social autistic-like traits in the general population using pooled DNA, 500 K SNP microarrays and both community and diagnosed autism replication samples. Behav Genet 40(1):31–45. doi:10.1007/s10519-009-9308-6

    Article  PubMed Central  PubMed  Google Scholar 

  • Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC, McGrew AD, Meyer KA, Moffat WJ, Murdoch JD, O'Roak BJ, Ober GT, Pottenger RS, Raubeson MJ, Song Y, Wang Q, Yaspan BL, Yu TW, Yurkiewicz IR, Beaudet AL, Cantor RM, Curland M, Grice DE, Gunel M, Lifton RP, Mane SM, Martin DM, Shaw CA, Sheldon M, Tischfield JA, Walsh CA, Morrow EM, Ledbetter DH, Fombonne E, Lord C, Martin CL, Brooks AI, Sutcliffe JS, Cook EH Jr, Geschwind D, Roeder K, Devlin B, State MW (2011) Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 70(5):863–885. doi:10.1016/j.neuron.2011.05.002

    Google Scholar 

  • Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, Murtha RC, Choi M, Overton JD, Bjornson RD, Carriero NJ, Meyer KA, Bilguvar K, Mane SM, Sestan N, Lifton RP, Gunel M, Roeder K, Geschwind DH, Devlin B, State MW (2012) De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 485(7397):237–241. doi:10.1038/nature10945

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Schaefer GB, Mendelsohn NJ, Professional Pratice and Guidelines Committee (2013) Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genet Med 15(5):399–407. doi:10.1038/gim.2013.32

    Article  CAS  PubMed  Google Scholar 

  • Schuch JB, Muller D, Endres RG, Bosa CA, Longo D, Schuler-Faccini L, Ranzan J, Becker MM, dos Santos Riesgo R, Roman T (2014) The role of b3 integrin gene variants in autism spectrum disorders—diagnosis and symptomatology. Gene 553:24–30

    Google Scholar 

  • Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J, Leotta A, Pai D, Zhang R, Lee YH, Hicks J, Spence SJ, Lee AT, Puura K, Lehtimaki T, Ledbetter D, Gregersen PK, Bregman J, Sutcliffe JS, Jobanputra V, Chung W, Warburton D, King MC, Skuse D, Geschwind DH, Gilliam TC, Ye K, Wigler M (2007) Strong association of de novo copy number mutations with autism. Science 316(5823):445–449. doi:10.1126/science.1138659

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Segurado R, Conroy J, Meally E, Fitzgerald M, Gill M, Gallagher L (2005) Confirmation of association between autism and the mitochondrial aspartate/glutamate carrier SLC25A12 gene on chromosome 2q31. Am J Psychiatry 162(11):2182–2184. doi:10.1176/appi.ajp.162.11.2182

    Article  PubMed  Google Scholar 

  • Serajee FJ, Zhong H, Mahbubul Huq AH (2006) Association of Reelin gene polymorphisms with autism. Genomics 87(1):75–83. doi:10.1016/j.ygeno.2005.09.008

    Article  CAS  PubMed  Google Scholar 

  • Sharma JR, Arieff Z, Gameeldien H, Davids M, Kaur M, van der Merwe L (2013) Association analysis of two single-nucleotide polymorphisms of the RELN gene with autism in the South African population. Genet Test Mol Biomarkers 17(2):93–98. doi:10.1089/gtmb.2012.0212

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Shi L, Zhang X, Golhar R, Otieno FG, He M, Hou C, Kim C, Keating B, Lyon GJ, Wang K, Hakonarson H (2013) Whole-genome sequencing in an autism multiplex family. Mol Autism 4(1):8. doi:10.1186/2040-2392-4-8

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Shishido E, Aleksic B, Ozaki N (2013) Copy-number variation in the pathogenesis of autism spectrum disorder. Psychiatry Clin Neurosci. doi:10.1111/pcn.12128

    Google Scholar 

  • Shuang M, Liu J, Jia MX, Yang JZ, Wu SP, Gong XH, Ling YS, Ruan Y, Yang XL, Zhang D (2004) Family-based association study between autism and glutamate receptor 6 gene in Chinese Han trios. Am J Med Genet B Neuropsychiatr Genet 131b(1):48–50. doi:10.1002/ajmg.b.30025

    Article  PubMed  Google Scholar 

  • Signorini C, De Felice C, Durand T, Oger C, Galano JM, Leoncini S, Pecorelli A, Valacchi G, Ciccoli L, Hayek J (2013) Isoprostanes and 4-hydroxy-2-nonenal: markers or mediators of disease? Focus on Rett syndrome as a model of autism spectrum disorder. Oxid Med Cell Longev 2013:343824. doi:10.1155/2013/343824

    Article  PubMed Central  PubMed  Google Scholar 

  • Silverman JM, Buxbaum JD, Ramoz N, Schmeidler J, Reichenberg A, Hollander E, Angelo G, Smith CJ, Kryzak LA (2008) Autism-related routines and rituals associated with a mitochondrial aspartate/glutamate carrier SLC25A12 polymorphism. Am J Med Genet B Neuropsychiatr Genet 147(3):408–410. doi:10.1002/ajmg.b.30614

    Article  PubMed  Google Scholar 

  • Singh AS, Chandra R, Guhathakurta S, Sinha S, Chatterjee A, Ahmed S, Ghosh S, Rajamma U (2013) Genetic association and gene-gene interaction analyses suggest likely involvement of ITGB3 and TPH2 with autism spectrum disorder (ASD) in the Indian population. Prog Neuropsychopharmacol Biol Psychiatry 45:131–143. doi:10.1016/j.pnpbp.2013.04.015

    Google Scholar 

  • Stefansson H, Meyer-Lindenberg A, Steinberg S, Magnusdottir B, Morgen K, Arnarsdottir S, Bjornsdottir G, Walters GB, Jonsdottir G, Doyle OM, Tost H, Grimm O, Kristjansdottir S, Snorrason H, Davidsdottir SR, Gudmundsson LJ, Jonsson GF, Stefansdottir B, Helgadottir I, Haraldsson M, Jonsdottir B, Thygesen JH, Schwarz AJ, Didriksen M, Stensbol TB, Brammer M, Kapur S, Halldorsson JG, Hreidarsson S, Saemundsen E, Sigurdsson E, Stefansson K (2013) CNVs conferring risk of autism or schizophrenia affect cognition in controls. Nature. doi:10.1038/nature12818

    Google Scholar 

  • Steinberg J, Webber C (2013) The roles of FMRP-regulated genes in autism spectrum disorder: single- and multiple-hit genetic etiologies. Am J Hum Genet 93(5):825–839. doi:10.1016/j.ajhg.2013.09.013

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Tierney AL, Gabard-Durnam L, Vogel-Farley V, Tager-Flusberg H, Nelson CA (2012) Developmental trajectories of resting EEG power: an endophenotype of autism spectrum disorder. PloS ONE 7(6):e39127. doi:10.1371/journal.pone.0039127

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Toma C, Torrico B, Hervas A, Valdes-Mas R, Tristan-Noguero A, Padillo V, Maristany M, Salgado M, Arenas C, Puente XS, Bayes M, Cormand B (2013) Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations. Mol Psychiatry. doi:10.1038/mp.2013.106

    Google Scholar 

  • Tordjman S, Somogyi E, Coulon N, Kermarrec S, Cohen D, Bronsard G, Bonnot O, Weismann-Arcache C, Botbol M, Lauth B, Ginchat V, Roubertoux P, Barburoth M, Kovess V, Geoffray MM, Xavier J (2014) Gene x environment interactions in autism spectrum disorders: role of epigenetic mechanisms. Front Psychiatry 5:53. doi:10.3389/fpsyt.2014.00053

    Article  PubMed Central  PubMed  Google Scholar 

  • Urdinguio RG, Fernandez AF, Lopez-Nieva P, Rossi S, Huertas D, Kulis M, Liu CG, Croce CM, Calin GA, Esteller M (2010) Disrupted microRNA expression caused by Mecp2 loss in a mouse model of Rett syndrome. Epigenetics 5(7):656–663. doi:10.4161/epi.5.7.13055

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Vorhees CV (1987) Behavioral teratogenicity of valproic acid: selective effects on behavior after prenatal exposure to rats. Psychopharmacology (Berl) 92(2):173–179

    Article  CAS  Google Scholar 

  • Wang L, Jia M, Yue W, Tang F, Qu M, Ruan Y, Lu T, Zhang H, Yan H, Liu J, Guo Y, Zhang J, Yang X, Zhang D (2008) Association of the ENGRAILED 2 (EN2) gene with autism in Chinese Han population. Am J Med Genet B Neuropsychiatr Genet 147b(4):434–438. doi:10.1002/ajmg.b.30623

    Article  CAS  PubMed  Google Scholar 

  • Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, Salyakina D, Imielinski M, Bradfield JP, Sleiman PM (2009) Common genetic variants on 5p14. 1 associate with autism spectrum disorders. Nature 459(7246):528–533

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Wang Z, Hong Y, Zou L, Zhong R, Zhu B, Shen N, Chen W, Lou J, Ke J, Zhang T, Wang W, Miao X (2014) Reelin gene variants and risk of autism spectrum disorders: an integrated meta-analysis. Am J Med Genet B Neuropsychiatr Genet 165b(2):192–200. doi:10.1002/ajmg.b.32222

    Article  PubMed  Google Scholar 

  • Weiss LA, Kosova G, Delahanty RJ, Jiang L, Cook EH, Ober C, Sutcliffe JS (2006a) Variation in ITGB3 is associated with whole-blood serotonin level and autism susceptibility. Eur J Hum Genet 14(8):923–931. doi:10.1038/sj.ejhg.5201644

    Article  CAS  PubMed  Google Scholar 

  • Weiss LA, Ober C, Cook EH Jr (2006b) ITGB3 shows genetic and expression interaction with SLC6A4. Hum Genet 120(1):93–100. doi:10.1007/s00439-006-0196-z

    Article  CAS  PubMed  Google Scholar 

  • Weiss LA, Arking DE, Daly MJ, Chakravarti A (2009) A genome-wide linkage and association scan reveals novel loci for autism. Nature 461(7265):802–808. doi:10.1038/nature08490

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Wheeler AC, Mussey J, Villagomez A, Bishop E, Raspa M, Edwards A, Bodfish J, Bann C, Bailey DB Jr (2014) DSM-5 changes and the prevalence of parent-reported autism spectrum symptoms in fragile X syndrome. J Autism Dev Disord. doi:10.1007/s10803-014-2246-z

    Google Scholar 

  • Whitaker-Azmitia PM (2005) Behavioral and cellular consequences of increasing serotonergic activity during brain development: a role in autism? Int J Dev Neurosci 23(1):75–83. doi:10.1016/j.ijdevneu.2004.07.022

    Article  CAS  PubMed  Google Scholar 

  • Whyte A, Jessen T, Varney S, Carneiro AM (2013) Serotonin transporter and integrin beta 3 genes interact to modulate serotonin uptake in mouse brain. Neurochem Int. doi:10.1016/j.neuint.2013.09.014

    Google Scholar 

  • Wolff JJ, Bodfish JW, Hazlett HC, Lightbody AA, Reiss AL, Piven J (2012) Evidence of a distinct behavioral phenotype in young boys with fragile X syndrome and autism. J Am Acad Child Adolesc Psychiatry 51(12):1324–1332. doi:10.1016/j.jaac.2012.09.001

    Article  PubMed Central  PubMed  Google Scholar 

  • Wu Y, Wang L (2002) The effects of antiepileptic drugs on spatial learning and hippocampal protein kinase C gamma in immature rats. Brain Dev 24(2):82–87

    Article  PubMed  Google Scholar 

  • Wu H, Tao J, Chen PJ, Shahab A, Ge W, Hart RP, Ruan X, Ruan Y, Sun YE (2010) Genome-wide analysis reveals methyl-CpG-binding protein 2-dependent regulation of microRNAs in a mouse model of Rett syndrome. Proc Natl Acad Sci U S A 107(42):18161–18166. doi:10.1073/pnas.1005595107

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Ye H, Liu J, Wu JY (2010) Cell adhesion molecules and their involvement in autism spectrum disorder. Neurosignals 18(2):62–71. doi:10.1159/000322543

    Article  CAS  PubMed  Google Scholar 

  • Young JI, Hong EP, Castle JC, Crespo-Barreto J, Bowman AB, Rose MF, Kang D, Richman R, Johnson JM, Berget S, Zoghbi HY (2005) Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2. Proc Natl Acad Sci U S A 102(49):17551–17558. doi:10.1073/pnas.0507856102

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Zafeiriou DI, Ververi A, Dafoulis V, Kalyva E, Vargiami E (2013) Autism spectrum disorders: the quest for genetic syndromes. Am J Med Genet B Neuropsychiatr Genet 162b(4):327–366. doi:10.1002/ajmg.b.32152

    Article  PubMed  Google Scholar 

  • Zhao X, Leotta A, Kustanovich V, Lajonchere C, Geschwind DH, Law K, Law P, Qiu S, Lord C, Sebat J, Ye K, Wigler M (2007) A unified genetic theory for sporadic and inherited autism. Proc Natl Acad Sci U S A 104(31):12831–12836. doi:10.1073/pnas.0705803104

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Zhou X, Xu Y, Wang J, Zhou H, Liu X, Ayub Q, Wang X, Tyler-Smith C, Wu L, Xue Y (2011) Replication of the association of a MET variant with autism in a Chinese Han population. PLoS ONE 6(11):e27428. doi:10.1371/journal.pone.0027428

    Article  CAS  PubMed Central  PubMed  Google Scholar 

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  1. Genetics Department, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil

    Jaqueline Bohrer Schuch, Luiza Monteavaro Mariath, Tatiana Roman & Lavinia Schuler-Faccini

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  1. Jaqueline Bohrer Schuch
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  2. Luiza Monteavaro Mariath
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Correspondence to Lavinia Schuler-Faccini .

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  1. Neuroimmunology Department, International Center for Neurological Restoration, Havana, Cuba

    Maria de los Angeles Robinson-Agramonte

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Schuch, J., Mariath, L., Roman, T., Schuler-Faccini, L. (2015). The Genetic Basis of Autism Spectrum Disorder. In: Robinson-Agramonte, M. (eds) Translational Approaches to Autism Spectrum Disorder. Springer, Cham. https://doi.org/10.1007/978-3-319-16321-5_3

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