Autism genetics: emerging data from genome-wide copy-number and single nucleotide polymorphism scans

References

• Freitag CM. The genetics of autistic disorders and its clinical relevance: a review of the literature. Mol. Psychiatry12(1), 2–22 (2007).
   PubMed Web of Science ®Google Scholar
• Abrahams BS, Geschwind DH. Advances in autism genetics: on the threshold of a new neurobiology. Nat. Rev. Genet.9(5), 341–355 (2008).
   PubMed Web of Science ®Google Scholar
• Henrichsen CN, Chaignat E, Reymond A. Copy number variants, diseases and gene expression. Hum. Mol. Genet.18(R1), R1–R8 (2009).
   Web of Science ®Google Scholar
• Ledbetter DH. Cytogenetic technology – genotype and phenotype. N. Engl. J. Med.359(16), 1728–1730 (2008).
   PubMedGoogle Scholar
• Sebat J, Lakshmi B, Malhotra D et al. Strong association of de novo copy number mutations with autism. Science316(5823), 445–449 (2007).
   PubMed Web of Science ®Google Scholar
• Szatmari P, Paterson AD, Zwaigenbaum L et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat. Genet.39(3), 319–328 (2007).
   PubMed Web of Science ®Google Scholar
• Feng J, Schroer R, Yan J et al. High frequency of neurexin 1b signal peptide structural variants in patients with autism. Neurosci. Lett.409(1), 10–13 (2006).
   PubMed Web of Science ®Google Scholar
• Yan J, Noltner K, Feng J et al. Neurexin 1a structural variants associated with autism. Neurosci. Lett.438(3), 368–370 (2008).
   PubMed Web of Science ®Google Scholar
• Need AC, Ge D, Weale ME et al. A genome-wide investigation of SNPs and CNVs in schizophrenia. PLoS Genet.5(2), e1000373 (2009).
   PubMed Web of Science ®Google Scholar
• Rujescu D, Ingason A, Cichon S et al. Disruption of the neurexin 1 gene is associated with schizophrenia. Hum. Mol. Genet.18(5), 988–996 (2009).
   PubMed Web of Science ®Google Scholar
• Vrijenhoek T, Buizer-Voskamp JE, van der Stelt I et al. Recurrent CNVs disrupt three candidate genes in schizophrenia patients. Am. J. Hum. Genet.83(4), 504–510 (2008).
   PubMed Web of Science ®Google Scholar
• Kirov G, Gumus D, Chen W et al. Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. Hum. Mol. Genet.17(3), 458–465 (2008).
   PubMed Web of Science ®Google Scholar
• Kim HG, Kishikawa S, Higgins AW et al. Disruption of neurexin 1 associated with autism spectrum disorder. Am. J. Hum. Genet.82(1), 199–207 (2008).
   PubMed Web of Science ®Google Scholar
• Zahir FR, Baross A, Delaney AD et al. A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1 α. J. Med. Genet.45(4), 239–243 (2008).
   PubMedGoogle Scholar
• Morrow EM, Yoo SY, Flavell SW et al. Identifying autism loci and genes by tracing recent shared ancestry. Science321(5886), 218–223 (2008).
   PubMed Web of Science ®Google Scholar
• Weiss LA, Shen Y, Korn JM et al. Association between microdeletion and microduplication at 16p11.2 and autism. N. Engl. J. Med.358(7), 667–675 (2008).
   PubMed Web of Science ®Google Scholar
• Kumar RA, KaraMohamed S, Sudi J et al. Recurrent 16p11.2 microdeletions in autism. Hum. Mol. Genet.17(4), 628–638 (2008).
   PubMed Web of Science ®Google Scholar
• Marshall CR, Noor A, Vincent JB et al. Structural variation of chromosomes in autism spectrum disorder. Am. J. Hum. Genet.82(2), 477–488 (2008).
   PubMed Web of Science ®Google Scholar
• Sharp AJ, Selzer RR, Veltman JA et al. Characterization of a recurrent 15q24 microdeletion syndrome. Hum. Mol. Genet.16(5), 567–572 (2007).
   PubMedGoogle Scholar
• Durand CM, Betancur C, Boeckers TM et al. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat. Genet.39(1), 25–27 (2007).
   PubMed Web of Science ®Google Scholar
• Phelan MC. Deletion 22q13.3 syndrome. Orphanet. J. Rare Dis.3, 14 (2008).
   PubMed Web of Science ®Google Scholar
• Moessner R, Marshall CR, Sutcliffe JS et al. Contribution of SHANK3 mutations to autism spectrum disorder. Am. J. Hum. Genet.81(6), 1289–1297 (2007).
   PubMed Web of Science ®Google Scholar
• Gauthier J, Spiegelman D, Piton A et al. Novel de novoSHANK3 mutation in autistic patients. Am. J. Med. Genet. B Neuropsychiatr. Genet.150B(3), 421–424 (2009).
   PubMed Web of Science ®Google Scholar
• Sharp AJ, Mefford HC, Li K et al. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat. Genet.40(3), 322–328 (2008).
   PubMed Web of Science ®Google Scholar
• Pagnamenta AT, Wing K, Akha ES et al. A 15q13.3 microdeletion segregating with autism. Eur. J. Hum. Genet.17(5), 687–692 (2009).
   PubMed Web of Science ®Google Scholar
• Ben-Shachar S, Lanpher B, German JR et al. Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J. Med. Genet.46(6), 382–388 (2009).
   PubMed Web of Science ®Google Scholar
• Miller DT, Shen Y, Weiss LA et al. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J. Med. Genet.46(4), 242–248 (2009).
   PubMedGoogle Scholar
• Helbig I, Mefford HC, Sharp AJ et al. 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat. Genet.41(2), 160–162 (2009).
   PubMed Web of Science ®Google Scholar
• Stefansson H, Rujescu D, Cichon S et al. Large recurrent microdeletions associated with schizophrenia. Nature455(7210), 232–236 (2008).
   PubMed Web of Science ®Google Scholar
• Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature455(7210), 237–241 (2008).
   PubMed Web of Science ®Google Scholar
• van Bon BW, Mefford HC, Menten B et al. Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. J. Med. Genet.46, 511–523 (2009).
   PubMed Web of Science ®Google Scholar
• Cusco I, Medrano A, Gener B et al. Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder. Hum. Mol. Genet.18(10), 1795–1804 (2009).
   PubMedGoogle Scholar
• Brunetti-Pierri N, Berg JS, Scaglia F et al. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat. Genet.40(12), 1466–1471 (2008).
   PubMedGoogle Scholar
• Mefford HC, Sharp AJ, Baker C et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N. Engl. J. Med.359(16), 1685–1699 (2008).
   PubMed Web of Science ®Google Scholar
• Glessner JT, Wang K, Cai G et al. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature459(7246), 569–573 (2009).
   PubMed Web of Science ®Google Scholar
• Weiss LA, Arking DE; Gene Discovery Project of Johns Hopkins and the Autism Consortium. Genome-wide linkage and association scan reveals novel loci for autism. Nature461, 802–808 (2009).
   PubMed Web of Science ®Google Scholar
• Wang K, Zhang H, Ma D et al. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature459(7246), 528–533 (2009).
   PubMed Web of Science ®Google Scholar
• Niklasson L, Rasmussen P, Oskarsdottir S, Gillberg C. Autism, ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome. Res. Dev. Disabil.30(4), 763–773 (2009).
   PubMed Web of Science ®Google Scholar
• Shprintzen RJ. Velo–cardio–facial syndrome: 30 years of study. Dev. Disabil. Res. Rev.14(1), 3–10 (2008).
   PubMed Web of Science ®Google Scholar
• Bijlsma EK, Gijsbers AC, Schuurs-Hoeijmakers JH et al. Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. Eur. J. Med. Genet.52(2–3), 77–87 (2009).
   PubMedGoogle Scholar
• Meechan DW, Maynard TM, Gopalakrishna D, Wu Y, LaMantia AS. When half is not enough: gene expression and dosage in the 22q11 deletion syndrome. Gene Expr.13(6), 299–310 (2007).
   PubMedGoogle Scholar
• Jamain S, Quach H, Betancur C et al. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat. Genet.34(1), 27–29 (2003).
   PubMed Web of Science ®Google Scholar
• Lawson-Yuen A, Saldivar JS, Sommer S, Picker J. Familial deletion within NLGN4 associated with autism and Tourette syndrome. Eur. J. Hum. Genet.16(5), 614–618 (2008).
   PubMed Web of Science ®Google Scholar
• Ferreira MA, O’Donovan MC, Meng YA et al. Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1Cin bipolar disorder. Nat. Genet.40(9), 1056–1058 (2008).
   PubMed Web of Science ®Google Scholar
• Casamassima F, Huang J, Fava M et al. Phenotypic effects of a bipolar liability gene among individuals with major depressive disorder. Am. J. Med. Genet. B Neuropsychiatr. Genet. DOI: 10.1002/ajmg.b.30962 (2009) (Epub ahead of print).
   Google Scholar
• Lettre G, Rioux JD. Autoimmune diseases: insights from genome-wide association studies. Hum. Mol. Genet.17(R2), R116–R121 (2008).
   PubMed Web of Science ®Google Scholar
• Baranzini SE, Galwey NW, Wang J et al. Pathway and network-based analysis of genome-wide association studies in multiple sclerosis. Hum. Mol. Genet.18(11), 2078–2090 (2009).
   PubMed Web of Science ®Google Scholar
• Purcell SM, Wray NR, Stone JL et al. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature460(7256), 748–752 (2009).
   PubMed Web of Science ®Google Scholar
• Cichon S, Craddock N, Daly M et al. Genomewide association studies: history, rationale, and prospects for psychiatric disorders. Am. J. Psychiatry166(5), 540–556 (2009).
   PubMed Web of Science ®Google Scholar
• Psychiatric GWAS Consortium Steering Committee. A framework for interpreting genome-wide association studies of psychiatric disorders. Mol. Psychiatry14(1), 10–17 (2009).
   PubMed Web of Science ®Google Scholar
• Adolphs R, Spezio ML, Parlier M, Piven J. Distinct face-processing strategies in parents of autistic children. Curr. Biol.18(14), 1090–1093 (2008).
   PubMed Web of Science ®Google Scholar
• Constantino JN, Todd RD. Intergenerational transmission of subthreshold autistic traits in the general population. Biol. Psychiatry57(6), 655–660 (2005).
   PubMed Web of Science ®Google Scholar
• Constantino JN, Lajonchere C, Lutz M et al. Autistic social impairment in the siblings of children with pervasive developmental disorders. Am. J. Psychiatry163(2), 294–296 (2006).
   PubMed Web of Science ®Google Scholar
• Dawson G, Webb SJ, Wijsman E et al. Neurocognitive and electrophysiological evidence of altered face processing in parents of children with autism: implications for a model of abnormal development of social brain circuitry in autism. Dev. Psychopathol.17(3), 679–697 (2005).
   PubMed Web of Science ®Google Scholar
• Pickles A, Starr E, Kazak S et al. Variable expression of the autism broader phenotype: findings from extended pedigrees. J. Child. Psychol. Psychiatry41(4), 491–502 (2000).
   PubMed Web of Science ®Google Scholar
• Dalton KM, Nacewicz BM, Alexander AL, Davidson RJ. Gaze-fixation, brain activation, and amygdala volume in unaffected siblings of individuals with autism. Biol. Psychiatry61(4), 512–520 (2007).
   PubMed Web of Science ®Google Scholar
• Silverman J, Smith C, Schmeidler J et al. Symptom domains in autism and related conditions: evidence for familiality. Am. J. Med. Genet. B Neuropsychiatr. Genet.114, 64–73 (2002).
   Web of Science ®Google Scholar
• Piven J, Palmer P, Landa R, Santangelo S, Jacobi D, Childress D. Personality and language characteristics in parents from multiple-incidence autism families. Am. J. Med. Genet.74(4), 398–411 (1997).
   PubMed Web of Science ®Google Scholar
• Kuperman S, Beeghly JH, Burns TL, Tsai LY. Serotonin relationships of autistic probands and their first-degree relatives. J. Am. Acad. Child Psychiatry24, 186–190 (1985).
   PubMedGoogle Scholar
• Abramson RK, Wright HH, Carpenter R et al. Elevated blood serotonin in autistic probands and their first-degree relatives. J. Autism Dev. Disord.19, 397–407 (1989).
   PubMedGoogle Scholar
• Cook EH, Leventhal BL, Heller W, Metz J, Wainwright M, Freedman DX. Autistic children and their first-degree relatives: relationships between serotonin and norepinephrine levels and intelligence. J. Neuropsychiatry Clin. Neurosci.2, 268–274 (1990).
   PubMedGoogle Scholar
• Cook EH Jr, Charak DA, Arida J, Spohn JA, Roizen NJ, Leventhal BL. Depressive and obsessive–compulsive symptoms in hyperserotonemic parents of children with autistic disorder. Psychiatry Res.52(1), 25–33 (1994).
   PubMedGoogle Scholar
• Leventhal BL, Cook EH Jr, Morford M, Ravitz A, Freedman DX. Relationships of whole blood serotonin and plasma norepinephrine within families. J. Autism Dev. Disord.20(4), 499–511 (1990).
   PubMed Web of Science ®Google Scholar
• Piven J, Chase GA, Landa R et al. Psychiatric disorders in the parents of autistic individuals. J. Am. Acad. Child Adolesc. Psychiatry30(3), 471–478 (1991).
   PubMed Web of Science ®Google Scholar