Autism spectrum disorders and epigenetics

Journal of the American Academy of Child and Adolescent Psychiatry

Volumn 49, Issue 8, 2010, Pages 794-809

  Grafodatskaya, Daria ^a   Chung, Brian ^a   Szatmari, Peter ^b   Weksberg, Rosanna ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b MCMASTER UNIVERSITY   (Canada)

Author keywords

autism spectrum disorders; epigenetics; genetics

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR BETA1; ADENOSINE TRIPHOSPHATASE; ANTICONVULSIVE AGENT; CATECHOL METHYLTRANSFERASE; DIHYDROFOLATE REDUCTASE; FRAGILE X MENTAL RETARDATION PROTEIN; HISTONE H3; METHYL CPG BINDING PROTEIN 2; NECDIN; OXYTOCIN RECEPTOR; PROTEIN; REELIN; SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE N; SMALL NUCLEOLAR RNA; TRANSCOBALAMIN II; UBIQUITIN PROTEIN LIGASE E3; UNCLASSIFIED DRUG; VALPROIC ACID;

AUTISM; BECKWITH WIEDEMANN SYNDROME; BIPOLAR DISORDER; CHROMOSOME 15Q; CHROMOSOME DUPLICATION; COMORBIDITY; DNA METHYLATION; DNA SEQUENCE; EPIGENETICS; GENE CONTROL; GENE DELETION; GENETIC RISK; GENOMICS; HAPPY PUPPET SYNDROME; HUMAN; INFERTILITY THERAPY; MISSENSE MUTATION; NONHUMAN; OCULOCUTANEOUS ALBINISM; PRADER WILLI SYNDROME; PRENATAL EXPOSURE; PRIORITY JOURNAL; PROMOTER REGION; RETT SYNDROME; REVIEW; SYNDROME CHARGE; TURNER SYNDROME; UNIPARENTAL DISOMY;

ADOLESCENT; ANGELMAN SYNDROME; CHARGE SYNDROME; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHROMOSOMES, HUMAN, PAIR 15; COMORBIDITY; EPIGENESIS, GENETIC; FRAGILE X SYNDROME; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MACROCEPHALY; PRADER-WILLI SYNDROME; RETT SYNDROME; RISK FACTORS; SOCIAL ENVIRONMENT; TURNER SYNDROME;

EID: 77955701221     PISSN: 08908567     EISSN: 15275418     Source Type: Journal    
DOI: 10.1016/j.jaac.2010.05.005     Document Type: Review

References (180)

1. American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders DSM-IV-TR Fourth Edition 2000 American Psychiatric Publishing Washington, DC
2. E. Fombonne Epidemiology of autistic disorder and other pervasive developmental disorders J Clin Psychiatry 66 Suppl 10 2005 3 8
3. E. Courchesne, and K. Pierce Why the frontal cortex in autism might be talking only to itself: local over-connectivity but long-distance disconnection Curr Opin Neurobiol 15 2005 225 230
4. E. Courchesne, E. Redcay, and D.P. Kennedy The autistic brain: birth through adulthood Curr Opin Neurol 17 2004 489 496
5. C.A. Pardo, and C.G. Eberhart The neurobiology of autism Brain Pathol 17 2007 434 447
6. C.J. Newschaffer, L.A. Croen, and J. Daniels The epidemiology of autism spectrum disorders Annu Rev Public Health 28 2007 235 258
7. B.S. Abrahams, and D.H. Geschwind Advances in autism genetics: on the threshold of a new neurobiology Nat Rev Genet 9 2008 341 355
8. B.R. Bill, and D.H. Geschwind Genetic advances in autism: heterogeneity and convergence on shared pathways Curr Opin Genet Dev 19 2009 271 278
9. A. Bird Perceptions of epigenetics Nature 447 2007 396 398 24
10. T.B. Miranda, and P.A. Jones DNA methylation: the nuts and bolts of repression J Cell Physiol 213 2007 384 390
11. M.M. Suzuki, and A. Bird DNA methylation landscapes: provocative insights from epigenomics Nat Rev Genet 9 2008 465 476
12. J.K. Kim, M. Samaranayake, and S. Pradhan Epigenetic mechanisms in mammals Cell Mol Life Sci 66 2009 596 612
13. B. Horsthemke, and K. Buiting Genomic imprinting and imprinting defects in humans Adv Genet 61 2008 225 246
14. C.A. Iacobuzio-Donahue Epigenetic Changes in Cancer Annu Rev Pathol 4 2009 229 249
15. I.K. Temple Imprinting in human disease with special reference to transient neonatal diabetes and Beckwith-Wiedemann syndrome Endocr Dev 12 2007 113 123
16. R. Muhle, S.V. Trentacoste, and I. Rapin The genetics of autism Pediatrics 113 2004 e472 e486
17. J. Moss, and P. Howlin Autism spectrum disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider autism spectrum disorder population J Intellect Disabil Res 53 2009 852 873
18. G.B. Schaefer, and N.J. Mendelsohn Genetics evaluation for the etiologic diagnosis of autism spectrum disorders Genet Med 10 2008 4 12
19. C. Lord, S. Risi, and L. Lambrecht The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism J Autism Dev Disord 30 2000 205 223
20. O.A. Abdul-Rahman, and L. Hudgins The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders Genet Med 8 2006 50 54
21. R.H. Mount, T. Charman, R.P. Hastings, S. Reilly, and H. Cass Features of autism in Rett syndrome and severe mental retardation J Autism Dev Disord 33 2003 435 442
22. K.S. Beyer, F. Blasi, E. Bacchelli, S.M. Klauck, E. Maestrini, and A. Poustka Mutation analysis of the coding sequence of the MECP2 gene in infantile autism Hum Genet 111 2002 305 309
23. R.M. Carney, C.M. Wolpert, and S.A. Ravan Identification of MeCP2 mutations in a series of females with autistic disorder Pediatr Neurol 28 2003 205 211
24. A.M. Coutinho, G. Oliveira, and C. Katz MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients Am J Med Genet B Neuropsychiatr Genet 144B 2007 475 483
25. A. Shibayama, E.H. Cook Jr., and J. Feng MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism Am J Med Genet B Neuropsychiatr Genet 128B 1 Jul 1 2004 50 53
26. C.W. Lam, W.L. Yeung, and C.H. Ko Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome J Med Genet 37 2000 E41
27. D.C. Crawford, J.M. Acuna, and S.L. Sherman FMR1 and the fragile X syndrome: human genome epidemiology review Genet Med 3 2001 359 371
28. S.W. Harris, D. Hessl, and B. Goodlin-Jones Autism profiles of males with fragile X syndrome Am J Ment Retard 113 2008 427 438
29. M.J. Descheemaeker, V. Govers, P. Vermeulen, and J.P. Fryns Pervasive developmental disorders in Prader-Willi syndrome: the Leuven experience in 59 subjects and controls Am J Med Genet A 140 2006 1136 1142
30. M.W. Veltman, R.J. Thompson, S.E. Roberts, N.S. Thomas, J. Whittington, and P.F. Bolton Prader-Willi syndromea study comparing deletion and uniparental disomy cases with reference to autism spectrum disorders Eur Child Adolesc Psychiatry 13 2004 42 50
31. A. Hogart, D. Wu, J.M. Lasalle, and N.C. Schanen The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13 Neurobiol Dis 38 2010 181 191
32. L. Kent, S. Bowdin, G.A. Kirby, W.N. Cooper, and E.R. Maher Beckwith Weidemann syndrome: a behavioral phenotype-genotype study Am J Med Genet B Neuropsychiatr Genet 147B 2008 1295 1297
33. T.S. Hartshorne, T.L. Grialou, and K.R. Parker Autistic-like behavior in CHARGE syndrome Am J Med Genet A 133A 2005 257 261
34. M. Johansson, M. Rastam, and E. Billstedt Autism spectrum disorders and underlying brain pathology in CHARGE association Dev Med Child Neurol 48 2006 40 50
35. I.M. Smith, S.L. Nichols, K. Issekutz, and K. Blake Behavioral profiles and symptoms of autism in CHARGE syndrome: preliminary Canadian epidemiological data Am J Med Genet A 133A 2005 248 256
36. D.H. Skuse, R.S. James, and D.V. Bishop Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function Nature 387 1997 705 708
37. T. Matijevic, J. Knezevic, M. Slavica, and J. Pavelic Rett syndrome: from the gene to the disease Eur Neurol 61 2009 3 10
38. X. Nan, H.H. Ng, and C.A. Johnson Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex Nature 393 1998 386 389
39. P.L. Jones, G.J. Veenstra, and P.A. Wade Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription Nat Genet 19 1998 187 191
40. M. Chahrour, S.Y. Jung, and C. Shaw MeCP2, a key contributor to neurological disease, activates and represses transcription Science 320 2008 1224 1229
41. K.C. Hite, V.H. Adams, and J.C. Hansen Recent advances in MeCP2 structure and function Biochem Cell Biol 87 2009 219 227
42. D.H. Yasui, S. Peddada, and M.C. Bieda Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes Proc Natl Acad Sci U S A 104 2007 19416 19421
43. J.I. Young, E.P. Hong, and J.C. Castle Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2 Proc Natl Acad Sci U S A 102 2005 17551 17558
44. M.D. Shahbazian, B. Antalffy, D.L. Armstrong, and H.Y. Zoghbi Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation Hum Mol Genet 11 2002 115 124
45. R.D. Smrt, J. Eaves-Egenes, and B.Z. Barkho Mecp2 deficiency leads to delayed maturation and altered gene expression in hippocampal neurons Neurobiol Dis 27 2007 77 89
46. W.G. Chen, Q. Chang, and Y. Lin Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2 Science 302 2003 885 889
47. R.P. Nagarajan, A.R. Hogart, Y. Gwye, M.R. Martin, and J.M. LaSalle Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation Epigenetics 1 2006 e1 e11
48. A. Renieri, F. Mari, and M.A. Mencarelli Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant) Brain Dev 31 2009 208 216
49. C.S. Loat, S. Curran, and C.M. Lewis Methyl-CpG-binding protein 2 polymorphisms and vulnerability to autism Genes Brain Behav 7 2008 754 760
50. A.M. Allan, X. Liang, and Y. Luo The loss of methyl-CpG binding protein 1 leads to autism-like behavioral deficits Hum Mol Genet 17 2008 2047 2057
51. H.N. Cukier, R. Rabionet, and I. Konidari Novel variants identified in methyl-CpG-binding domain genes in autistic individuals [published online ahead of print] Neurogenetics November 18, 2009 10.1007/s10048-009-0228-7
52. A. Maddalena, C.S. Richards, and M.J. McGinniss Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics Quality Assurance Subcommittee of the Laboratory Practice Committee Genet Med 3 2001 200 205
53. B.E. Pfeiffer, and K.M. Huber The state of synapses in fragile X syndrome Neuroscientist 15 2009 549 567
54. H. Tan, H. Li, and P. Jin RNA-mediated pathogenesis in fragile X-associated disorders Neurosci Lett 466 2009 103 108
55. R.J. Hagerman Physical and behavioral phenotype R.J. Hagerman, Fragile X Syndrome: Diagnosis, Treatment, and Research 1996 John Hopkins University Press Baltimore 3 88
56. B.B. de Vries, A.M. Wiegers, and A.P. Smits Mental status of females with an FMR1 gene full mutation Am J Hum Genet 58 1996 1025 1032
57. E. Tabolacci, U. Moscato, F. Zalfa, C. Bagni, P. Chiurazzi, and G. Neri Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations Eur J Hum Genet 16 2008 1487 1498
58. S. Clifford, C. Dissanayake, Q.M. Bui, R. Huggins, A.K. Taylor, and D.Z. Loesch Autism spectrum phenotype in males and females with fragile X full mutation and premutation J Autism Dev Disord 37 2007 738 747
59. D.B. Bailey Jr., D.D. Hatton, M. Skinner, and G. Mesibov Autistic behavior, FMR1 protein, and developmental trajectories in young males with fragile X syndrome J Autism Dev Disord 31 2001 165 174
60. R.J. Hagerman, A.W. Jackson 3rd, A. Levitas, B. Rimland, and M. Braden An analysis of autism in fifty males with the fragile X syndrome Am J Med Genet 23 1986 359 374
61. A.S. Kau, E. Tierney, and I. Bukelis Social behavior profile in young males with fragile X syndrome: characteristics and specificity Am J Med Genet A 126A 2004 9 17
62. D.Z. Loesch, Q.M. Bui, and C. Dissanayake Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X Neurosci Biobehav Rev 31 2007 315 326
63. J.L. Matson, and M. Shoemaker Intellectual disability and its relationship to autism spectrum disorders Res Dev Disabil 30 2009 1107 1114
64. S. Vig, and E. Jedrysek Autistic features in young children with significant cognitive impairment: autism or mental retardation? J Autism Dev Disord 29 1999 235 248
65. B. Tycko, and I.M. Morison Physiological functions of imprinted genes J Cell Physiol 192 2002 245 258
66. C.A. Edwards, and A.C. Ferguson-Smith Mechanisms regulating imprinted genes in clusters Curr Opin Cell Biol 19 2007 281 289
67. A.K. Swales, and N. Spears Genomic imprinting and reproduction Reproduction 130 2005 389 399
68. M.G. Butler Prader-Willi syndrome: current understanding of cause and diagnosis Am J Med Genet 35 1990 319 332
69. Y. Jiang, E. Lev-Lehman, J. Bressler, T.F. Tsai, and A.L. Beaudet Genetics of Angelman syndrome Am J Hum Genet 65 1999 1 6
70. B. Horsthemke, and J. Wagstaff Mechanisms of imprinting of the Prader-Willi/Angelman region Am J Med Genet A 146A 2008 2041 2052
71. R.D. Nicholls, and J.L. Knepper Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes Annu Rev Genomics Hum Genet 2 2001 153 175
72. B. Horsthemke, and K. Buiting Imprinting defects on human chromosome 15 Cytogenet Genome Res 113 2006 292 299
73. T. Sahoo, D. del Gaudio, and J.R. German Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster Nat Genet 40 2008 719 721
74. A. Dimitropoulos, and R.T. Schultz Autistic-like symptomatology in Prader-Willi syndrome: a review of recent findings Curr Psychiatry Rep 9 2007 159 164
75. K.M. Milner, E.E. Craig, and R.J. Thompson Prader-Willi syndrome: intellectual abilities and behavioural features by genetic subtype J Child Psychol Psychiatry 46 2005 1089 1096
76. M.W. Veltman, E.E. Craig, and P.F. Bolton Autism spectrum disorders in Prader-Willi and Angelman syndromes: a systematic review Psychiatr Genet 15 2005 243 254
77. M.W. Veltman, R.J. Thompson, and E.E. Craig A paternally inherited duplication in the Prader-Willi/Angelman syndrome critical region: a case and family study J Autism Dev Disord 35 2005 117 127
78. M.T. Bonati, S. Russo, and P. Finelli Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes Neurogenetics 8 2007 169 178
79. A. Trillingsgaard Autism in Angelman syndrome: an exploration of comorbidity JR OS Autism 8 2004 163 174
80. S.U. Peters, A.L. Beaudet, N. Madduri, and C.A. Bacino Autism in Angelman syndrome: implications for autism research Clin Genet 66 2004 530 536
81. S. Steffenburg, C.L. Gillberg, U. Steffenburg, and M. Kyllerman Autism in Angelman syndrome: a population-based study Pediatr Neurol 14 1996 131 136
82. J.M. Kramer, and H. van Bokhoven Genetic and epigenetic defects in mental retardation Int J Biochem Cell Biol 41 2009 96 107
83. C.A. Williams, A. Dagli, and A. Battaglia Genetic disorders associated with macrocephaly Am J Med Genet A 146A 2008 2023 2037
84. M.G. Butler, M.J. Dasouki, and X.P. Zhou Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations J Med Genet 42 2005 318 321
85. G.E. Herman, E. Butter, B. Enrile, M. Pastore, T.W. Prior, and A. Sommer Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly Am J Med Genet A 143 2007 589 593
86. A.C. Smith, S. Choufani, J.C. Ferreira, and R. Weksberg Growth regulation, imprinted genes, and chromosome 11p15.5 Pediatr Res 61 2007 43R 47R
87. J.D. Morrow, B.Y. Whitman, and P.J. Accardo Autistic disorder in Sotos syndrome: a case report Eur J Pediatr 149 1990 567 569
88. S.E. Mouridsen, and M.B. Hansen Neuropsychiatric aspects of Sotos syndrome A review and two case illustrations Eur Child Adolesc Psychiatry 11 2002 43 48
89. M. Zapella Autistic features in children affected by cerebral gigantism Brain Dysfunction 3 1990 241 244
90. G.V. Rayasam, O. Wendling, and P.O. Angrand NSD1 is essential for early post-implantation development and has a catalytically active SET domain EMBO J 22 2003 3153 3163
91. J.D. Buxbaum, G. Cai, and G. Nygren Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly BMC Med Genet 8 2007 68
92. W. Davies, A. Isles, and R. Smith Xlr3b is a new imprinted candidate for X-linked parent-of-origin effects on cognitive function in mice Nat Genet 37 2005 625 629
93. C. Creswell, and D.H. Skuse Autism in association with Turner syndrome: genetic implications for male vulnerability to pervasive developmental disorders Neurocase 5 1999 511 518
94. N.C. Schanen Epigenetics of autism spectrum disorders Hum Mol Genet 15 Spec No 2 2006 R138 R150
95. P.F. Bolton, M. Roobol, L. Allsopp, and A. Pickles Association between idiopathic infantile macrocephaly and autism spectrum disorders Lancet 358 2001 726 727
96. P.F. Bolton, M.W. Veltman, and E. Weisblatt Chromosome 15q11 to 15q13 abnormalities and other medical conditions in individuals with autism spectrum disorders Psychiatr Genet 14 2004 131 137
97. N.S. Thomas, C.E. Browne, C. Oley, S. Healey, and J.A. Crolla Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region Hum Genet 105 1999 384 387
98. C.E. Browne, N.R. Dennis, and E. Maher Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations Am J Hum Genet 61 1997 1342 1352
99. R. Mao, S.M. Jalal, K. Snow, V.V. Michels, S.M. Szabo, and D. Babovic-Vuksanovic Characteristics of two cases with dup(15)(q11.2-q12): one of maternal and one of paternal origin Genet Med 2 2000 131 135
100. T.K. Mohandas, J.P. Park, and R.A. Spellman Paternally derived de novo interstitial duplication of proximal 15q in a patient with developmental delay Am J Med Genet 82 1999 294 300
101. S.E. Roberts, N.R. Dennis, and C.E. Browne Characterisation of interstitial duplications and triplications of chromosome 15q11-q13 Hum Genet 110 2002 227 234
102. C. Depienne, D. Moreno-De-Luca, and D. Heron Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders Biol Psychiatry 66 2009 349 359
103. A. Ciechanover, and A.L. Schwartz The ubiquitin-mediated proteolytic pathway: mechanisms of recognition of the proteolytic substrate and involvement in the degradation of native cellular proteins FASEB J 8 1994 182 191
104. Y. Nishimura, C.L. Martin, and A. Vazquez-Lopez Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways Hum Mol Genet 16 2007 1682 1698
105. C.A. Baron, C.G. Tepper, and S.Y. Liu Genomic and functional profiling of duplicated chromosome 15 cell lines reveal regulatory alterations in UBE3A-associated ubiquitin-proteasome pathway processes Hum Mol Genet 15 2006 853 869
106. A. Hogart, K.N. Leung, and N.J. Wang Chromosome 15q11 to 15q13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number J Med Genet 46 2009 86 93
107. R.C. Samaco, A. Hogart, and J.M. LaSalle Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3 Hum Mol Genet 14 2005 483 492
108. A. Hogart, R.P. Nagarajan, K.A. Patzel, D.H. Yasui, and J.M. Lasalle 15q11 to 15q13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders Hum Mol Genet 16 2007 691 703
109. J.D. Buxbaum, J.M. Silverman, and C.J. Smith Association between a GABRB3 polymorphism and autism Mol Psychiatry 7 2002 311 316
110. E.H. Cook Jr., R.Y. Courchesne, and N.J. Cox Linkage-disequilibrium mapping of autistic disorder, with 15q11 to 15q13 markers Am J Hum Genet 62 1998 1077 1083
111. E.R. Martin, M.M. Menold, and C.M. Wolpert Analysis of linkage disequilibrium in gamma-aminobutyric acid receptor subunit genes in autistic disorder Am J Med Genet 96 2000 43 48
112. J.L. McCauley, L.M. Olson, and R. Delahanty 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 2004 51 59
113. E.L. Nurmi, T. Amin, and L.M. Olson Dense linkage disequilibrium mapping in the 15q11-q13 maternal expression domain yields evidence for association in autism Mol Psychiatry 8 2003 570 624-634 (Pubitemid 36898015)
114. Y. Shao, M.L. Cuccaro, and E.R. Hauser Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes Am J Hum Genet 72 2003 539 548
115. L.A. Weiss, Y. Shen, and J.M. Korn Association between microdeletion and microduplication at 16p11.2 and autism N Engl J Med 358 2008 667 675
116. C.L. Ulrey, L. Liu, L.G. Andrews, and T.O. Tollefsbol The impact of metabolism on DNA methylation Hum Mol Genet 14 Spec No 1 2005 R139 R147
117. S.P. Pasca, E. Dronca, and T. Kaucsar One carbon metabolism disturbances and the C667T MTHFR gene polymorphism in children with autism spectrum disorders [published online ahead of print] J Cell Mol Med August 9, 2008 10.1111/j.1582-4934.2008.00463.x
118. M. Boris, A. Goldblatt, and J. James Association of MTHFR gene variants with autism J G J Am Phys Surgeons 9 2004 106 108
119. M. Adams, M. Lucock, J. Stuart, S. Fardell, K. Baker, and X. Ng Preliminary evidence for involvement of the folate gene polymorphism 19bp deletion-DHFR in occurrence of autism Neurosci Lett 422 2007 24 29
120. R.P. Goin-Kochel, A.E. Porter, S.U. Peters, M. Shinawi, T. Sahoo, and A.L. Beaudet The MTHFR 677C→T polymorphism and behaviors in children with autism: exploratory genotype-phenotype correlations Autism Res 2 2009 98 108
121. N.S. Mohammad, J.M. Jain, K.P. Chintakindi, R.P. Singh, U. Naik, and R.R. Akella Aberrations in folate metabolic pathway and altered susceptibility to autism Psychiatr Genet 19 2009 171 176
122. S.J. James, S. Melnyk, and S. Jernigan Metabolic endophenotype and related genotypes are associated with oxidative stress in children with autism Am J Med Genet B Neuropsychiatr Genet 141B 2006 947 956
123. M. Ebbing, K.H. Bonaa, and O. Nygard Cancer incidence and mortality after treatment with folic acid and vitamin B12 JAMA 302 2009 2119 2126
124. M. Lucock, and Z. Yates Folic acid fortification: a double-edged sword Curr Opin Clin Nutr Metab Care 12 2009 555 564
125. J.A. Lamb, G. Barnby, and E. Bonora Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects J Med Genet 42 2005 132 137
126. E. Bonora, E. Bacchelli, and E.R. Levy Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region Mol Psychiatry 7 2002 289 301
127. S.P. Hamilton, J.M. Woo, E.J. Carlson, N. Ghanem, M. Ekker, and J.L. Rubenstein Analysis of four DLX homeobox genes in autistic probands BMC Genet 6 2005 52
128. N. Nakashima, T. Yamagata, M. Mori, M. Kuwajima, K. Suwa, and M.Y. Momoi Expression analysis and mutation detection of DLX5 and DLX6 in autism Brain Dev 32 2010 98 104
129. E. Richler, J.G. Reichert, J.D. Buxbaum, and L.A. McInnes Autism and ultraconserved non-coding sequence on chromosome 7q Psychiatr Genet 16 2006 19 23
130. D. Kotzot, and G. Utermann Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated Am J Med Genet A 136 2005 287 305
131. E. Engel, and C.D. DeLozier-Blanchet Uniparental disomy, isodisomy, and imprinting: probable effects in man and strategies for their detection Am J Med Genet 40 1991 432 439
132. T.H. Wassink, M. Losh, and R.S. Frantz A case of autism and uniparental disomy of chromosome 1 Hum Genet 117 2005 200 206
133. E. Bonora, K.S. Beyer, and J.A. Lamb Analysis of reelin as a candidate gene for autism Mol Psychiatry 8 2003 885 892
134. H. Li, Y. Li, and J. Shao The association analysis of RELN and GRM8 genes with autistic spectrum disorder in Chinese Han population Am J Med Genet B Neuropsychiatr Genet 147B 2008 194 200
135. F.J. Serajee, H. Zhong, and A.H. Mahbubul Huq Association of Reelin gene polymorphisms with autism Genomics 87 2006 75 83
136. D.A. Skaar, Y. Shao, and J.L. Haines Analysis of the RELN gene as a genetic risk factor for autism Mol Psychiatry 10 2005 563 571
137. F. Tissir, and A.M. Goffinet Reelin and brain development Nat Rev Neurosci 4 2003 496 505
138. S.H. Fatemi, A.V. Snow, and J.M. Stary Reelin signaling is impaired in autism Biol Psychiatry 57 2005 777 787
139. H.M. Abdolmaleky, K.H. Cheng, and A. Russo Hypermethylation of the reelin (RELN) promoter in the brain of schizophrenic patients: a preliminary report Am J Med Genet B Neuropsychiatr Genet 134B 2005 60 66
140. A.M. Persico, L. D'Agruma, and N. Maiorano Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder Mol Psychiatry 6 2001 150 159
141. H. Zhang, X. Liu, and C. Zhang Reelin gene alleles and susceptibility to autism spectrum disorders Mol Psychiatry 7 2002 1012 1017
142. A.M. Persico, P. Levitt, and A.F. Pimenta Polymorphic GGC repeat differentially regulates human reelin gene expression levels J Neural Transm 113 2006 1373 1382
143. N. Tom, and S.J. Assinder Oxytocin in health and disease Int J Biochem Cell Biol 42 2010 202 205
144. S. Jacob, C.W. Brune, C.S. Carter, B.L. Leventhal, C. Lord, and E.H. Cook Jr Association of the oxytocin receptor gene (OXTR) in Caucasian children and adolescents with autism Neurosci Lett 417 2007 6 9
145. E. Lerer, S. Levi, S. Salomon, A. Darvasi, N. Yirmiya, and R.P. Ebstein Association between the oxytocin receptor (OXTR) gene and autism: relationship to Vineland Adaptive Behavior Scales and cognition Mol Psychiatry 13 2008 980 988
146. X. Liu, Y. Kawamura, and T. Shimada Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population J Hum Genet 55 2010 137 141
147. S. Wu, M. Jia, and Y. Ruan Positive association of the oxytocin receptor gene (OXTR) with autism in the Chinese Han population Biol Psychiatry 58 2005 74 77
148. S.G. Gregory, J.J. Connelly, and A.J. Towers Genomic and epigenetic evidence for oxytocin receptor deficiency in autism BMC Med 7 2009 62
149. L. Cheng, Q. Ge, and P. Xiao Association study between BDNF gene polymorphisms and autism by three-dimensional gel-based microarray Int J Mol Sci 10 2009 2487 2500
150. S. Djalali, M. Holtje, and G. Grosse Effects of brain-derived neurotrophic factor (BDNF) on glial cells and serotonergic neurones during development J Neurochem 92 2005 616 627
151. K. Martinowich, D. Hattori, and H. Wu DNA methylation-related chromatin remodeling in activity-dependent BDNF gene regulation Science 302 2003 890 893
152. K. Nishimura, K. Nakamura, and A. Anitha Genetic analyses of the brain-derived neurotrophic factor (BDNF) gene in autism Biochem Biophys Res Commun 356 2007 200 206
153. P. Rumajogee, A. Madeira, D. Verge, M. Hamon, and M.C. Miquel Up-regulation of the neuronal serotoninergic phenotype in vitro: BDNF and cAMP share Trk B-dependent mechanisms J Neurochem 83 2002 1525 1528
154. D.C. Chugani Serotonin in autism and pediatric epilepsies Ment Retard Dev Disabil Res Rev 10 2004 112 116
155. S.J. Kim, N. Cox, and R. Courchesne Transmission disequilibrium mapping at the serotonin transporter gene (SLC6A4) region in autistic disorder Mol Psychiatry 7 2002 278 288
156. J.S. Sutcliffe, R.J. Delahanty, and H.C. Prasad Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors Am J Hum Genet 77 2005 265 279
157. T.H. Wassink, H.C. Hazlett, and E.A. Epping Cerebral cortical gray matter overgrowth and functional variation of the serotonin transporter gene in autism Arch Gen Psychiatry 64 2007 709 717
158. A. Ornoy Valproic acid in pregnancy: how much are we endangering the embryo and fetus? Reprod Toxicol 28 2009 1 10
159. G. Rosenberg The mechanisms of action of valproate in neuropsychiatric disorders: can we see the forest for the trees? Cell Mol Life Sci 64 2007 2090 2103
160. S.J. Moore, P. Turnpenny, and A. Quinn A clinical study of 57 children with fetal anticonvulsant syndromes J Med Genet 37 2000 489 497 (Pubitemid 30428234)
161. A.D. Rasalam, H. Hailey, and J.H. Williams Characteristics of fetal anticonvulsant syndrome associated autistic disorder Dev Med Child Neurol 47 2005 551 555
162. C.J. Phiel, F. Zhang, E.Y. Huang, M.G. Guenther, M.A. Lazar, and P.S. Klein Histone deacetylase is a direct target of valproic acid, a potent anticonvulsant, mood stabilizer, and teratogen J Biol Chem 276 2001 36734 36741
163. E. Yildirim, Z. Zhang, T. Uz, C.Q. Chen, R. Manev, and H. Manev Valproate administration to mice increases histone acetylation and 5-lipoxygenase content in the hippocampus Neurosci Lett 345 2003 141 143
164. R.P. Sharma, C. Rosen, and S. Kartan Valproic acid and chromatin remodeling in schizophrenia and bipolar disorder: preliminary results from a clinical population Schizophr Res 88 2006 227 231
165. S. Milutinovic, A.C. D'Alessio, N. Detich, and M. Szyf Valproate induces widespread epigenetic reprogramming which involves demethylation of specific genes Carcinogenesis 28 2007 560 571
166. E. Kolozsi, R.N. Mackenzie, F.I. Roullet, D. Decatanzaro, and J.A. Foster Prenatal exposure to valproic acid leads to reduced expression of synaptic adhesion molecule neuroligin 3 in mice Neuroscience 163 2009 1201 1210
167. R.M. Rivera, P. Stein, J.R. Weaver, J. Mager, R.M. Schultz, and M.S. Bartolomei Manipulations of mouse embryos prior to implantation result in aberrant expression of imprinted genes on day 9.5 of development Hum Mol Genet 17 2008 1 14
168. R. Fernandez-Gonzalez, P. Moreira, and A. Bilbao Long-term effect of in vitro culture of mouse embryos with serum on mRNA expression of imprinting genes, development, and behavior Proc Natl Acad Sci U S A 101 2004 5880 5885
169. A. Sato, E. Otsu, H. Negishi, T. Utsunomiya, and T. Arima Aberrant DNA methylation of imprinted loci in superovulated oocytes Hum Reprod 22 2007 26 35 (Pubitemid 44942663)
170. M.R. DeBaun, E.L. Niemitz, and A.P. Feinberg Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19 Am J Hum Genet 72 2003 156 160
171. M.E. Doornbos, S.M. Maas, J. McDonnell, J.P. Vermeiden, and R.C. Hennekam Infertility, assisted reproduction technologies and imprinting disturbances: a Dutch study Hum Reprod 22 2007 2476 2480
172. J. Halliday, K. Oke, S. Breheny, E. Algar, and J.A. D Beckwith-Wiedemann syndrome and IVF: a case-control study Am J Hum Genet 75 2004 526 528
173. E.R. Maher, L.A. Brueton, and S.C. Bowdin Beckwith-Wiedemann syndrome and assisted reproduction technology (ART) J Med Genet 40 2003 62 64
174. K.H. Orstavik, K. Eiklid, and C.B. van der Hagen Another case of imprinting defect in a girl with Angelman syndrome who was conceived by intracytoplasmic semen injection Am J Hum Genet 72 2003 218 219
175. D. Hvidtjorn, L. Schieve, D. Schendel, B. Jacobsson, C. Svaerke, and P. Thorsen Cerebral palsy, autism spectrum disorders, and developmental delay in children born after assisted conception: a systematic review and meta-analysis Arch Pediatr Adolesc Med 163 2009 72 83
176. R. Klemetti, T. Sevon, M. Gissler, and E. Hemminki Health of children born as a result of in vitro fertilization Pediatrics 118 2006 1819 1827
177. M. Knoester, F.M. Helmerhorst, L.A. van der Westerlaken, F.J. Walther, and S. Veen Matched follow-up study of 5 8-year-old ICSI singletons: child behaviour, parenting stress and child (health-related) quality of life Hum Reprod 22 2007 3098 3107
178. R.D. Maimburg, and M. Vaeth Do children born after assisted conception have less risk of developing infantile autism? Hum Reprod 22 2007 1841 1843
179. N. Tsankova, W. Renthal, A. Kumar, and E.J. Nestler Epigenetic regulation in psychiatric disorders Nat Rev Neurosci 8 2007 355 367
180. M. Szyf Epigenetics, DNA methylation, and chromatin modifying drugs Annu Rev Pharmacol Toxicol 49 2009 243 263