Genetics of autism spectrum disorder (original) (raw)

• Kanner L : Autistic disturbances of affective contact. Nerv Child 1943; 2: 217–250.
  Google Scholar
• Asperger H : Die autistischen psychopathen im kindesalter. Arch Psychiatr Nervenkr 1944; 117: 76–136.
  Article Google Scholar
• American Psychiatric Association: Diagnostic and statistical manual of mental disorders, 4th edn. Washington, DC, USA: American Psychiatric Association, 1994.
• World Health Organization: International classification of mental and behavioral disorders. Clinical descriptions and diagnostic guidelines, 10th edn. Geneva: World Health Organization, 1992.
• Lord C, Rutter M, Le Couteur A : Autism diagnostic interview-revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 1994; 24: 659–685.
  Article CAS PubMed Google Scholar
• Lord C, Risi S, Lambrecht L et al: The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord 2000; 30: 205–223.
  Article CAS PubMed Google Scholar
• Fombonne E : Epidemiological surveys of autism and other pervasive developmental disorders: an update. J Autism Dev Disord 2003; 33: 365–382.
  Article PubMed Google Scholar
• Bailey A, Le Couteur A, Gottesman I et al: Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med 1995; 25: 63–78.
  Article CAS PubMed Google Scholar
• Pickles A, Bolton P, Macdonald H et al: Latent-class analysis of recurrence risks for complex phenotypes with selection and measurement error: a twin and family history study of autism. Am J Hum Genet 1995; 57: 717–726.
  CAS PubMed PubMed Central Google Scholar
• Pritchard JK : Are rare variants responsible for susceptibility to complex diseases? Am J Hum Genet 2001; 69: 124–137.
  Article CAS PubMed PubMed Central Google Scholar
• Smalley SL : Genetic influences in childhood-onset psychiatric disorders: autism and attention-deficit/hyperactivity disorder. Am J Hum Genet 1997; 60: 1276–1282.
  Article CAS PubMed PubMed Central Google Scholar
• Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY : Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999; 23: 185–188.
  Article CAS PubMed Google Scholar
• Weaving LS, Ellaway CJ, Gécz J, Christodoulou J : Rett syndrome: clinical review and genetic update. J Med Genet 2005; 42: 1–7.
  Article CAS PubMed PubMed Central Google Scholar
• Risch N, Merikangas K : The future of genetic studies of complex human disease. Science 1996; 273: 1516–1517.
  Article CAS PubMed Google Scholar
• International Molecular Genetic Study of Autism Consortium: A full genome screen for autism with evidence for linkage to a region on chromosome 7q. Hum Mol Genet 1998; 7: 571–578.
• Philippe A, Martinez M, Guilloud-Bataille M et al: Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study. Hum Mol Genet 1999; 8: 805–812.
  Article CAS PubMed Google Scholar
• Risch N, Spiker D, Lotspeich L et al: A genomic screen of autism: evidence for a multilocus etiology. Am J Hum Genet 1999; 65: 493–507.
  Article CAS PubMed PubMed Central Google Scholar
• Barrett S, Beck JC, Bernier R et al: An autosomal genomic screen for autism. Collaborative Linkage Study of Autism. Am J Med Genet 1999; 88: 609–615.
  Article CAS PubMed Google Scholar
• Buxbaum JD, Silverman JM, Smith CJ et al: Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity. Am J Hum Genet 2001; 68: 1514–1520.
  Article CAS PubMed PubMed Central Google Scholar
• Liu J, Nyholt DR, Magnussen P et al: A genomewide screen for autism susceptibility loci. Am J Hum Genet 2001; 69: 327–340.
  Article CAS PubMed PubMed Central Google Scholar
• Shao Y, Wolpert CM, Raiford KL et al: Genomic screen and follow-up analysis for autistic disorder. Am J Med Genet (Neuropsychiatr Genet) 2002; 114: 99–105.
  Article Google Scholar
• Auranen M, Vanhala R, Varilo T et al: A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25–27. Am J Hum Genet 2002; 71: 777–790.
  Article PubMed PubMed Central Google Scholar
• Cantor RM, Kono N, Duvall JA et al: Replication of autism linkage: fine-mapping peak at 17q21. Am J Hum Genet 2005; 76: 1050–1056.
  Article CAS PubMed PubMed Central Google Scholar
• International Molecular Genetic Study of Autism Consortium (IMGSAC): A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p. Am J Hum Genet 2001; 69: 570–581.
• Alarcón M, Cantor RM, Liu J et al: Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families. Am J Hum Genet 2002; 70: 60–71.
  Article PubMed Google Scholar
• Yonan AL, Alarcon M, Cheng R et al: A genomewide screen of 345 families for autism-susceptibility loci. Am J Hum Genet 2003; 73: 886–897.
  Article CAS PubMed PubMed Central Google Scholar
• Alarcón M, Yonan AL, Gilliam TC, Cantor RM, Geschwind DH : Quantitative genome scan and ordered-subsets analysis of autism endophenotypes support language QTLs. Mol Psychiatry 2005; 10: 747–757.
  Article PubMed Google Scholar
• Ashley-Koch A, Wolpert CM, Menold MM et al: Genetic studies of autistic disorder and chromosome 7. Genomics 1999; 61: 227–236.
  Article CAS PubMed Google Scholar
• International Molecular Genetic Study of Autism Consortium (IMGSAC): Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q. Hum Mol Genet 2001; 10: 973–982.
• Bradford Y, Haines J, Hutcheson H et al: Incorporating language phenotypes strengthens evidence of linkage to autism. Am J Med Genet (Neuropsychiatr Genet) 2001; 105: 539–547.
  Article CAS Google Scholar
• Shao Y, Raiford KL, Wolpert CM et al: Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder. Am J Hum Genet 2002; 70: 1058–1061.
  Article CAS PubMed PubMed Central Google Scholar
• Ramoz N, Reichert JG, Smith CJ et al: Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism. Am J Psychiatry 2004; 161: 662–669.
  Article PubMed Google Scholar
• Faham M, Zheng J, Moorhead M et al: Multiplexed variation scanning for 1000 amplicons in hundreds of patients using mismatch repair detection (MRD) on tag arrays. Proc Natl Acad Sci USA 2005; 102: 14717–14722.
  Article CAS PubMed PubMed Central Google Scholar
• Blasi F, Bacchelli E, Carone S et al: SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex sample. Eur J Hum Genet 2006; 14: 123–126.
  Article CAS PubMed Google Scholar
• Persico AM, D’Agruma L, Maiorano N et al: Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder. Mol Psychiatry 2001; 6: 150–159.
  Article CAS PubMed Google Scholar
• Zhang H, Liu X, Zhang C et al: Reelin gene alleles and susceptibility to autism spectrum disorders. Mol Psychiatry 2002; 7: 1012–1017.
  Article CAS PubMed Google Scholar
• Skaar DA, Shao Y, Haines JL et al: Analysis of the RELN gene as genetic risk factor for autism. Mol Psychiatry 2005; 10: 563–571.
  Article CAS PubMed Google Scholar
• Serajee FJ, Zhong H, Mahbubul Huq AHM : Association of reelin gene polymorphisms with autism. Genomics 2006; 87: 75–83.
  Article CAS PubMed Google Scholar
• Krebs MO, Betancur C, Leroy S et al: Absence of association between a polymorphic GGC repeat in the 5’ untranslated region of the reelin gene and autism. Mol Psychiatry 2002; 7: 801–804.
  Article CAS PubMed PubMed Central Google Scholar
• Bonora E, Beyer KS, Lamb JA et al: Analysis of reelin as a candidate gene for autism. Mol Psychiatry 2003; 8: 885–892.
  Article CAS PubMed Google Scholar
• Devlin B, Bennett P, Dawson G et al: Alleles of a reelin CGG repeat do not convey liability to autism in a sample from the CPEA network. Am J Med Genet Part B (Neuropsychiatr Genet) 2004; 126B: 46–50.
  Article Google Scholar
• Li J, Nguyen L, Gleason C et al: Lack of evidence for an association between WNT2 and RELN polymorphisms and autism. Am J Med Genet Part B (Neuropsychiatr Genet) 2004; 126B: 51–57.
  Article Google Scholar
• Fatemi SH, Snow AV, Stary JM et al: Reelin signalling is impaired in autism. Biol Psychiatry 2005; 57: 777–787.
  Article CAS PubMed Google Scholar
• Benayed R, Gharani N, Rossman I 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.
  Article CAS PubMed PubMed Central Google Scholar
• Lamb JA, Barnby G, Bonora E et al: Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects. J Med Genet 2005; 42: 132–137.
  Article CAS PubMed PubMed Central Google Scholar
• Stone JL, Merriman B, Cantor R et al: Evidence for sex-specific risk alleles in autism spectrum disorder. Am J Hum Genet 2004; 75: 1117–1123.
  Article CAS PubMed PubMed Central Google Scholar
• Buxbaum JD, Silverman J, Keddache M et al: Linkage analysis for autism in a subset of families with obsessive-compulsive behaviors: Evidence for an autism susceptibility gene on chromosome 1 and further support for susceptibility genes on chromosome 6 and 19. Mol Psychiatry 2004; 9: 144–150.
  Article CAS PubMed Google Scholar
• McCauley JL, Li C, Jiang L et al: Genome-wide and ordered-subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates. BMC Med Genet 2005; 6: 1.
  Article PubMed PubMed Central Google Scholar
• Molloy CA, Keddache M, Martin LJ : Evidence for linkage on 21q and 7q in a subset of autism characterized by developmental regression. Mol Psychiatry 2005; 10: 741–746.
  Article CAS PubMed Google Scholar
• Shao Y, Cuccaro ML, Hauser ER et al: Fine mapping of autistic disorder to chromosome 15q11–q13 by use of phenotypic subtypes. Am J Hum Genet 2003; 72: 539–548.
  Article CAS PubMed PubMed Central Google Scholar
• Vorstman JA, Staal WG, van Daalen E et al: Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Mol Psychiatry 2006; 11: 18–28.
  Article CAS Google Scholar
• Nurmi EL, Dowd M, Tadevosyan-Leyfer O, Haines JL, Folstein SE, Sutcliffe JS : Exploratory subsetting of autism families based on savant skills improves evidence of genetic linkage to 15q11–q13. J Am Acad Child Adolesc Psychiatry 2003; 42: 856–863.
  Article PubMed Google Scholar
• Ma DQ, Jaworski J, Menold MM et al: Ordered-subset analysis of savant skills in autism for 15q11–q13. Am J Med Genet Part B (Neuropsychiatr Genet) 2005; 135B: 38–41.
  Article CAS Google Scholar
• Ylisaukko-oja T, Nieminen-von Wendt T, Kempas E et al: Genome-wide scan for loci of Asperger syndrome. Mol Psychiatry 2004; 9: 161–168.
  Article CAS PubMed Google Scholar
• Castermans D, Wilquet V, Steyaert J, Van de Ven W, Fryns J-P, Devriendt K : Chromosomal anomalies in individuals with autism. Autism 2004; 8: 141–161.
  Article PubMed Google Scholar
• Cook Jr EH, Courchesne RY, Cox NJ et al: Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers. Am J Hum Genet 1998; 62: 1077–1083.
  Article CAS PubMed PubMed Central Google Scholar
• Martin ER, Menold MM, Wolpert CM et al: Analysis of linkage disequilibrium in _γ_-aminobutyric acid receptor subunit genes in autistic disorder. Am J Med Genet (Neuropsychiatr Genet) 2000; 96: 43–48.
  Article Google Scholar
• Buxbaum JD, Silverman JM, Smith CJ et al: Association between a GABRB3 polymorphism and autism. Mol Psychiatry 2002; 7: 311–316.
  Article CAS PubMed Google Scholar
• McCauley JL, Olson LM, Delahanty R et al: A linkage disequilibrium map of the 1-Mb 15q12 GABAA receptor subunit cluster and association to autism. Am J Med Genet Part B (Neuropsychiatr Genet) 2004; 131B: 51–59.
  Article Google Scholar
• Curran S, Roberts S, Thomas S et al: An association analysis of microsatellite markers across the Prader-Willi/Angelman critical region on chromsome 15 (q11–13) and autism spectrum disorder. Am J Med Genet B Neuropsychiatr Genet 2005; 137B: 25–28.
  Article PubMed Google Scholar
• Ghaziuddin M, Burmeister M : Deletion of chromosome 2 q37 and autism: a distinct subtype? J Autism Dev Disord 1999; 29: 259–263.
  Article CAS PubMed Google Scholar
• Wolff DJ, Clifton K, Karr C, Charles J : Pilot assessment of the subtelomeric regions of children with autism: detection of a 2q deletion. Genet Med 2002; 4: 10–14.
  Article PubMed Google Scholar
• Lukusa T, Vermeesch JR, Holvoet M, Fryns JP, Devriendt K : Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder. Genet Counsel 2004; 15: 293–301.
  CAS PubMed Google Scholar
• Wassink TH, Piven J, Vieland VJ et al: Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene. Am J Med Genet Part B (Neuropsychiatr Genet) 2005; 136B: 36–44.
  Article Google Scholar
• Solinas-Toldo S, Lampel S, Stilgenbauer S et al: Matrix-based comparative genomic hybridisation: biochips to screen for genomic imbalances. Genes Chromosomes Cancer 1997; 20: 399–407.
  Article CAS PubMed Google Scholar
• Lucito R, Healy J, Alexander J et al: Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation. Genome Res 2003; 13: 2291–2305.
  Article CAS PubMed PubMed Central Google Scholar
• Sebat J, Lakshmi B, Troge J et al: Large-scale copy number polymorphism in the human genome. Science 2004; 305: 525–528.
  Article CAS PubMed Google Scholar
• Iafrate AJ, Feuk L, Rivera M et al: Detection of large-scale variation in the human genome. Nat Genet 2004; 36: 949–951.
  Article CAS PubMed Google Scholar
• Devlin B, Cook Jr EH, Coon H et al: Autism and the serotonin transporter: the long and short of it. Mol Psychiatry 2005; 10: 1110–1116.
  Article CAS PubMed Google Scholar
• Wendland JR, Martin BJ, Kruse MR, Lesch K-P, Murphy DL : Simultaneous genotyping of four functional loci of human SLC6A4, with reappraisal of 5-HTTLPR and rs25531. Mol Psychiatry 2006; 11: 224–226.
  Article CAS PubMed Google Scholar
• Kim SJ, Cox N, Courchesne R et al: Transmission disequilibrium mapping at the serotonin transporter gene (SLC6A4) region in autistic disorder. Mol Psychiatry 2002; 7: 278–288.
  Article CAS PubMed Google Scholar
• Sutcliffe JS, Delahanty RJ, Prasad HC et al: Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors. Am J Hum Genet 2005; 77: 265–279.
  Article CAS PubMed PubMed Central Google Scholar
• Ozaki N, Goldman d, Kaye WH et al: Serotonin transporter missense mutation associated with a complex neuropsychiatric phenotype. Mol Psychiatry 2003; 8: 933–936.
  Article CAS PubMed Google Scholar
• Thomas NS, Sharp AJ, Browne CE, Skuse D, Hardie C, Dennis NR : Xp deletions associated with autism in three females. Hum Genet 1999; 104: 43–48.
  Article CAS PubMed Google Scholar
• Jamain S, Quach H, Betancour C et al: Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet 2003; 34: 27–29.
  Article CAS PubMed PubMed Central Google Scholar
• Chih B, Afridi SK, Clark L, Scheiffele P : Disorder-associated mutations lead to functional inactivation of neuroligins. Hum Mol Genet 2004; 13: 1471–1477.
  Article CAS PubMed Google Scholar
• Laumonnier F, Bonnet-Brilhault F, Gomot M 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.
  Article CAS PubMed PubMed Central Google Scholar
• Yan J, Oliveira G, Coutinho A et al: Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients. Mol Psychiatry 2005; 10: 329–335.
  Article CAS PubMed Google Scholar
• Vincent JB, Kolozsvari D, Roberts WS, Bolton PF, Gurling HMD, Scherer SW : Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands. Am J Med Genet Part B (Neuropsychiatr Genet) 2004; 129B: 82–84.
  Article Google Scholar
• Talebizadeh Z, Bittel DC, Veatch O, Butler M, Takahashi TN, Miles JH : Do known mutations in neuroligin genes (NLGN3 and NLGN4) cause autism? J Autism Dev Disord 2004; 34: 735–736.
  Article PubMed PubMed Central Google Scholar
• Gauthier J, Bonnel A, St-Onge J et al: NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population. Am J Med Genet Part B (Neuropsychiatr Genet) 2005; 132B: 74–75.
  Article Google Scholar
• Ylisaukko-oja T, Rehnström K, Auranen M et al: Analysis of four neuroligin genes as candidates for autism. Eur J Hum Genet 2005; 13: 1285–1292.
  Article CAS PubMed Google Scholar
• Carlson CS, Eberle MA, Kruglyak L, Nickerson DA : Mapping complex disease loci in whole-genome association studies. Nature 2004; 429: 446–452.
  Article CAS PubMed Google Scholar
• The International HapMap Consortium: A haplotype map of the human genome. Nature 2005; 437: 1299–1320.
• Hu-Lince D, Craig DW, Huentelman MJ, Stephan DA : The autism genome project: goals and strategies. Am J Pharmacogenomics 2005; 5: 233–246.
  Article CAS PubMed Google Scholar