Genes associated with autism spectrum disorder

Brain Research Bulletin

Volumn 88, Issue 6, 2012, Pages 543-552

  Li, Xiaohong ^a   Zou, Hua ^a,b   Brown, W Ted ^a  

^a NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

^b FIRST MILITARY MEDICAL UNIVERSITY   (China)

Author keywords

Autism spectrum disorder; Candidate genes; Etiology; Genetic susceptibility

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR ALPHA4; CONTACTIN; CONTACTIN ASSOCIATED PROTEIN LIKE 2; GLUTAMATE RECEPTOR 6; NEUROLIGIN; OXYTOCIN RECEPTOR; REELIN; SCATTER FACTOR RECEPTOR; SEROTONIN TRANSPORTER; TRANSCRIPTION FACTOR PITX3; TRYPTOPHAN HYDROXYLASE 2; UNCLASSIFIED DRUG;

ALLELE; AUTISM; CHROMOSOME 16P; COPY NUMBER VARIATION; CYTOGENETICS; ETHNIC GROUP; EXOME; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE ENVIRONMENT INTERACTION; HUMAN; MOLECULAR GENETICS; PRIORITY JOURNAL; REVIEW; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM;

CARRIER PROTEINS; CELL ADHESION MOLECULES, NEURONAL; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHILD, PRESCHOOL; CHROMOSOME MAPPING; EXTRACELLULAR MATRIX PROTEINS; GENE DOSAGE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INFANT; MEMBRANE PROTEINS; MITOCHONDRIAL MEMBRANE TRANSPORT PROTEINS; NERVE TISSUE PROTEINS; PROTO-ONCOGENE PROTEINS C-MET; RECEPTORS, GABA-A; RECEPTORS, OXYTOCIN; SERINE ENDOPEPTIDASES; SEROTONIN PLASMA MEMBRANE TRANSPORT PROTEINS;

EID: 84864087818     PISSN: 03619230     EISSN: 18732747     Source Type: Journal    
DOI: 10.1016/j.brainresbull.2012.05.017     Document Type: Review

References (185)

1. Abrahams B.S., Geschwind D.H. Advances in autism genetics: on the threshold of a new neurobiology. Nature Reviews Genetics 2008, 9(5):341-355.
2. Alarcon M., et al. Linkage: association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. American Journal of Human Genetics 2008, 82(1):150-159.
3. Aldinger K.A., Qiu S. New mouse genetic model duplicates human 15q11-13 autistic phenotypes, or does it?. Disease Models and Mechanisms 2010, 3(1-2):3-4.
4. Alvarez R.A., et al. Association of common variants in the Joubert syndrome gene (AHI1) with autism. Human Molecular Genetics 2008, 17(24):3887-3896.
5. Anderson B.M., et al. Examination of association of genes in the serotonin system to autism. Neurogenetics 2009, 10(3):209-216.
6. Prevalence of autism spectrum disorders - autism and developmental disabilities monitoring network, 14 sites, United States, 2002. MMWR. Surveillance Summaries 2007, 56(1):12-28.
7. Prevalence of autism spectrum disorders - autism and developmental disabilities monitoring network, six sites, United States, 2000. MMWR. Surveillance Summaries 2007, 56(1):1-11.
8. Prevalence of autism spectrum disorders - Autism and Developmental Disabilities Monitoring Network, United States, 2006. MMWR. Surveillance Summaries 2009, 58(10):1-20.
9. Arking D.E., et al. A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. American Journal of Human Genetics 2008, 82(1):160-164.
10. Ashley-Koch A.E., et al. Investigation of potential gene-gene interactions between APOE and RELN contributing to autism risk. Psychiatric Genetics 2007, 17(4):221-226.
11. Babatz T.D., et al. Copy number and sequence variants implicate APBA2 as an autism candidate gene. Autism Research 2009, 2(6):359-364.
12. Bailey A., et al. Autism as a strongly genetic disorder: evidence from a British twin study. Psychological Medicine 1995, 25(1):63-77.
13. Bailey A., et al. A clinicopathological study of autism. Brain 1998, 121(Pt 5):889-905.
14. Bakkaloglu B., et al. Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. American Journal of Human Genetics 2008, 82(1):165-173.
15. Barnby G., et al. Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT. American Journal of Human Genetics 2005, 76(6):950-966.
16. Baron-Cohen S., Knickmeyer R.C., Belmonte M.K. Sex differences in the brain: implications for explaining autism. Science 2005, 310(5749):819-823.
17. Betancur C. Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Research 2011, 1380:42-77.
18. Betancur C., et al. Serotonin transporter gene polymorphisms and hyperserotonemia in autistic disorder. Molecular Psychiatry 2002, 7(1):67-71.
19. Betancur C., Sakurai T., Buxbaum J.D. The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders. Trends in Neurosciences 2009, 32(7):402-412.
20. Bilguvar K., et al. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature 2010, 467(7312):207-210.
21. Blasi F., et al. SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample. European Journal of Human Genetics 2006, 14(1):123-126.
22. Blasi F., et al. Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2006, 141B(3):220-221.
23. Bolton P.F., et al. Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders. Psychiatric Genetics 2004, 14(3):131-137.
24. Burbach J.P., van der Zwaag B. Contact in the genetics of autism and schizophrenia. Trends in Neurosciences 2009, 32(2):69-72.
25. Buxbaum J.D., et al. Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity. American Journal of Human Genetics 2001, 68(6):1514-1520.
26. Buxbaum J.D., et al. Association between a GABRB3 polymorphism and autism. Molecular Psychiatry 2002, 7(3):311-316.
27. Caglayan A.O. Genetic causes of syndromic and non-syndromic autism. Developmental Medicine and Child Neurology 2010, 52(2):130-138.
28. Cai G., et al. Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT. BMC Medical Genomics 2008, 1:50.
29. Campbell D.B., et al. A genetic variant that disrupts MET transcription is associated with autism. Proceedings of the National Academy of Sciences of the United States of America 2006, 103(45):16834-16839.
30. Campbell D.B., et al. Disruption of cerebral cortex MET signaling in autism spectrum disorder. Annals of Neurology 2007, 62(3):243-250.
31. Campbell D.B., et al. Genetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorder. Autism Research 2008, 1(3):159-168.
32. Campbell D.B., et al. Association of MET with social and communication phenotypes in individuals with autism spectrum disorder. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2010, 153B(2):438-446.
33. Chien W.H., et al. Association study of the SLC25A12 gene and autism in Han Chinese in Taiwan. Progress in Neuro-Psychopharmacology and Biological Psychiatry 2010, 34(1):189-192.
34. Cho I.H., et al. Family-based association study of 5-HTTLPR and the 5-HT2A receptor gene polymorphisms with autism spectrum disorder in Korean trios. Brain Research 2007, 1139:34-41.
35. Cho S.C., et al. Copy number variations associated with idiopathic autism identified by whole-genome microarray-based comparative genomic hybridization. Psychiatric Genetics 2009, 19(4):177-185.
36. Choi M., et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proceedings of the National Academy of Sciences of the United States of America 2009, 106(45):19096-19101.
37. Christian S.L., et al. Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biological Psychiatry 2008, 63(12):1111-1117.
38. Cook E.J., et al. Evidence of linkage between the serotonin transporter and autistic disorder. Molecular Psychiatry 1997, 2(3):247-250.
39. Cook E.J., et al. Linkage-disequilibrium mapping of autistic disorder: with 15q11-13 markers. American Journal of Human Genetics 1998, 62(5):1077-1083.
40. Coon H., et al. Possible association between autism and variants in the brain-expressed tryptophan hydroxylase gene (TPH2). American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2005, 135B(1):42-46.
41. Coutinho A.M., et al. Variants of the serotonin transporter gene (SLC6A4) significantly contribute to hyperserotonemia in autism. Molecular Psychiatry 2004, 9(3):264-271.
42. Coutinho A.M., et al. Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels. Human Genetics 2007, 121(2):243-256.
43. Cukier H.N., et al. Identification of chromosome 7 inversion breakpoints in an autistic family narrows candidate region for autism susceptibility. Autism Research 2009, 2(5):258-266.
44. Curran T., D'Arcangelo G. Role of reelin in the control of brain development. Brain Research. Brain Research Reviews 1998, 26(2-3):285-294.
45. Curran S., et al. An association analysis of microsatellite markers across the Prader-Willi/Angelman critical region on chromosome 15 (q11-13) and autism spectrum disorder. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2005, 137B(1):25-28.
46. Cusco I., et al. Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder. Human Molecular Genetics 2009, 18(10):1795-1804.
47. D'Arcangelo G., et al. A protein related to extracellular matrix proteins deleted in the mouse mutant reeler. Nature 1995, 374(6524):719-723.
48. Del A.A., Satrustegui J. Molecular cloning of Aralar: a new member of the mitochondrial carrier superfamily that binds calcium and is present in human muscle and brain. Journal of Biological Chemistry 1998, 273(36):23327-23334.
49. Del R.J., et al. A role for Cajal-Retzius cells and reelin in the development of hippocampal connections. Nature 1997, 385(6611):70-74.
50. Depienne C., et al. Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders. Biological Psychiatry 2009, 66(4):349-359.
51. Devlin B., et al. Alleles of a reelin CGG repeat do not convey liability to autism in a sample from the CPEA network. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2004, 126B(1):46-50.
52. Dutta S., et al. Reelin gene polymorphisms in the Indian population: a possible paternal 5'UTR-CGG-repeat-allele effect on autism. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2007, 144B(1):106-112.
53. Dutta S., et al. Glutamate receptor 6 gene (GluR6 or GRIK2) polymorphisms in the Indian population: a genetic association study on autism spectrum disorder. Cellular and Molecular Neurobiology 2007, 27(8):1035-1047.
54. Fatemi S.H., et al. Dysregulation of Reelin and Bcl-2 proteins in autistic cerebellum. Journal of Autism and Developmental Disorders 2001, 31(6):529-535.
55. Fatemi S.H., Stary J.M., Egan E.A. Reduced blood levels of reelin as a vulnerability factor in pathophysiology of autistic disorder. Cellular and Molecular Neurobiology 2002, 22(2):139-152.
56. Fatemi S.H., et al. Reelin signaling is impaired in autism. Biological Psychiatry 2005, 57(7):777-787.
57. Filipek P.A., et al. Mitochondrial dysfunction in autistic patients with 15q inverted duplication. Annals of Neurology 2003, 53(6):801-804.
58. Gauthier J., et al. NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2005, 132B(1):74-75.
59. Geschwind D.H., Levitt P. Autism spectrum disorders: developmental disconnection syndromes. Current Opinion in Neurobiology 2007, 17(1):103-111.
60. Glessner J.T., et al. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 2009, 459(7246):569-573.
61. Goffinet A.M. The embryonic development of the cerebellum in normal and reeler mutant mice. Anatomy and Embryology 1983, 168(1):73-86.
62. Goffinet A.M. The embryonic development of the inferior olivary complex in normal and reeler (rlORL) mutant mice. Journal of Comparative Neurology 1983, 219(1):10-24.
63. Goffinet A.M. Events governing organization of postmigratory neurons: studies on brain development in normal and reeler mice. Brain Research 1984, 319(3):261-296.
64. Green J.J., Hollander E. Autism and oxytocin: new developments in translational approaches to therapeutics. Neurotherapeutics 2010, 7(3):250-257.
65. Gregory S.G., et al. Genomic and epigenetic evidence for oxytocin receptor deficiency in autism. BMC Medicine 2009, 7:62.
66. Guhathakurta S., et al. Serotonin transporter promoter variants: Analysis in Indian autistic and control population. Brain Research 2006, 1092(1):28-35.
67. Guhathakurta S., et al. Population-based association study and contrasting linkage disequilibrium pattern reveal genetic association of SLC6A4 with autism in the Indian population from West Bengal. Brain Research 2008, 1240:12-21.
68. Guhathakurta S., et al. Analysis of serotonin receptor 2A gene (HTR2A): association study with autism spectrum disorder in the Indian population and investigation of the gene expression in peripheral blood leukocytes. Neurochemistry International 2009, 55(8):754-759.
69. Hoffman E.J., State M.W. Progress in cytogenetics: implications for child psychopathology. Journal of the American Academy of Child and Adolescent Psychiatry 2010, 49(8):736-751. (Quiz 856-857).
70. Huang C.H., Santangelo S.L. Autism and serotonin transporter gene polymorphisms: a systematic review and meta-analysis. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2008, 147B(6):903-913.
71. Hutcheson H.B., et al. Examination of NRCAM, LRRN3, KIAA0716, and LAMB1 as autism candidate genes. BMC Medical Genetics 2004, 5:12.
72. Jackson P.B., et al. Further evidence that the rs1858830C variant in the promoter region of the MET gene is associated with autistic disorder. Autism Research 2009, 2(4):232-236.
73. Jacob S., et al. Association of the oxytocin receptor gene (OXTR) in Caucasian children and adolescents with autism. Neuroscience Letters 2007, 417(1):6-9.
74. Jamain S., et al. Linkage and association of the glutamate receptor 6 gene with autism. Molecular Psychiatry 2002, 7(3):302-310.
75. Jamain S., et al. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nature Genetics 2003, 34(1):27-29.
76. Junaid M.A., et al. Proteomic studies identified a single nucleotide polymorphism in glyoxalase I as autism susceptibility factor. American Journal of Medical Genetics Part A 2004, 131(1):11-17.
77. Kim S.J., et al. Transmission disequilibrium mapping at the serotonin transporter gene (SLC6A4) region in autistic disorder. Molecular Psychiatry 2002, 7(3):278-288.
78. Kim S.A., et al. Association of GABRB3 polymorphisms with autism spectrum disorders in Korean trios. Neuropsychobiology 2006, 54(3):160-165.
79. Kim S.A., et al. Family-based association study between GRIK2 polymorphisms and autism spectrum disorders in the Korean trios. Neuroscience Research 2007, 58(3):332-335.
80. Kim S.J., et al. Transmission disequilibrium testing of the chromosome 15q11-q13 region in autism. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2008, 147B(7):1116-1125.
81. King M., Bearman P. Diagnostic change and the increased prevalence of autism. International Journal of Epidemiology 2009, 38(5):1224-1234.
82. Klauck S.M., et al. Serotonin transporter (5-HTT) gene variants associated with autism?. Human Molecular Genetics 1997, 6(13):2233-2238.
83. Koishi S., et al. Serotonin transporter gene promoter polymorphism and autism: a family-based genetic association study in Japanese population. Brain and Development 2006, 28(4):257-260.
84. Krebs M.O., et al. Absence of association between a polymorphic GGC repeat in the 5' untranslated region of the reelin gene and autism. Molecular Psychiatry 2002, 7(7):801-804.
85. Kumar R.A., Christian S.L. Genetics of autism spectrum disorders. Current Neurology and Neuroscience Reports 2009, 9(3):188-197.
86. Kumar R.A., et al. Recurrent 16p11.2 microdeletions in autism. Human Molecular Genetics 2008, 17(4):628-638.
87. Kumar R.A., et al. A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism. Journal of Medical Genetics 2010, 47(2):81-90.
88. Kwasnicka-Crawford D.A., Roberts W., Scherer S.W. Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region. Journal of Autism and Developmental Disorders 2007, 37(4):694-702.
89. Lerer E., et al. Association between the oxytocin receptor (OXTR) gene and autism: relationship to Vineland Adaptive Behavior Scales and cognition. Molecular Psychiatry 2008, 13(10):980-988.
90. Levitt P., Campbell D.B. The genetic and neurobiologic compass points toward common signaling dysfunctions in autism spectrum disorders. Journal of Clinical Investigation 2009, 119(4):747-754.
91. Levitt P., Eagleson K.L., Powell E.M. Regulation of neocortical interneuron development and the implications for neurodevelopmental disorders. Trends in Neurosciences 2004, 27(7):400-406.
92. Li J., et al. Lack of evidence for an association between WNT2 and RELN polymorphisms and autism. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2004, 126B(1):51-57.
93. Li H., et al. The association analysis of RELN and GRM8 genes with autistic spectrum disorder in Chinese Han population. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2008, 147B(2):194-200.
94. Lintas C., Persico A.M. Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist. Journal of Medical Genetics 2009, 46(1):1-8.
95. Liu K., Zerubavel N., Bearman P. Social demographic change and autism. Demography 2010, 47(2):327-343.
96. Liu X., et al. Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population. Journal of Human Genetics 2010, 55(3):137-141.
97. Lord C., et al. Autism diagnostic observation schedule: a standardized observation of communicative and social behavior. Journal of Autism and Developmental Disorders 1989, 19(2):185-212.
98. 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. Journal of Autism and Developmental Disorders 1994, 24(5):659-685.
99. Lucht M.J., et al. Associations between the oxytocin receptor gene (OXTR) and affect: loneliness and intelligence in normal subjects. Progress in Neuro-Psychopharmacology and Biological Psychiatry 2009, 33(5):860-866.
100. Ma D.Q., et al. Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism. American Journal of Human Genetics 2005, 77(3):377-388.
101. Ma D.Q., et al. Dissecting the locus heterogeneity of autism: significant linkage to chromosome 12q14. Molecular Psychiatry 2007, 12(4):376-384.
102. Ma D., et al. A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. Annals of Human Genetics 2009, 73(Pt 3):263-273.
103. Ma D.Q., et al. Association and gene-gene interaction of SLC6A4 and ITGB3 in autism. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2010, 153B(2):477-483.
104. Maestrini E., et al. Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. The International Molecular Genetic Study of Autism Consortium. American Journal of Medical Genetics 1999, 88(5):492-496.
105. Marshall C.R., et al. Structural variation of chromosomes in autism spectrum disorder. American Journal of Human Genetics 2008, 82(2):477-488.
106. Martin E.R., et al. Analysis of linkage disequilibrium in gamma-aminobutyric acid receptor subunit genes in autistic disorder. American Journal of Medical Genetics 2000, 96(1):43-48.
107. Marui T., et al. Association of the neuronal cell adhesion molecule (NRCAM) gene variants with autism. International Journal of Neuropsychopharmacology 2009, 12(1):1-10.
108. Marui T., et al. Association between autism and variants in the wingless-type MMTV integration site family member 2 (WNT2) gene. International Journal of Neuropsychopharmacology 2010, 13(4):443-449.
109. McCauley J.L., et al. Linkage and association analysis at the serotonin transporter (SLC6A4) locus in a rigid-compulsive subset of autism. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2004, 127B(1):104-112.
110. McCauley J.L., et al. A linkage disequilibrium map of the 1-Mb 15q12 GABA(A) receptor subunit cluster and association to autism. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2004, 131B(1):51-59.
111. McCauley J.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 Medical Genetics 2005, 6:1.
112. McDougle C.J., et al. A double-blind, placebo-controlled study of fluvoxamine in adults with autistic disorder. Archives of General Psychiatry 1996, 53(11):1001-1008.
113. Menold M.M., et al. Association analysis of chromosome 15 gabaa receptor subunit genes in autistic disorder. Journal of Neurogenetics 2001, 15(3-4):245-259.
114. Nakatani J., et al. Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism. Cell 2009, 137(7):1235-1246.
115. Nonkin A.R., et al. Evaluation of a records-review surveillance system used to determine the prevalence of autism spectrum disorders. Journal of Autism and Developmental Disorders 2010.
116. Noor A., et al. Disruption at the PTCHD1 locus on Xp22.11 in autism spectrum disorder and intellectual disability. Science Translational Medicine 2010, 2(49):49ra68.
117. Nurmi E.L., et al. Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families. Genomics 2001, 77(1-2):105-113.
118. O'Roak B.J., State M.W. Autism genetics: strategies, challenges, and opportunities. Autism Research 2008, 1(1):4-17.
119. Pampanos A., et al. A substitution involving the NLGN4 gene associated with autistic behavior in the Greek population. Genetic Testing and Molecular Biomarkers 2009, 13(5):611-615.
120. Park M., et al. Mechanism of met oncogene activation. Cell 1986, 45(6):895-904.
121. Persico A.M., et al. Lack of association between serotonin transporter gene promoter variants and autistic disorder in two ethnically distinct samples. American Journal of Medical Genetics 2000, 96(1):123-127.
122. Persico A.M., et al. Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder. Molecular Psychiatry 2001, 6(2):150-159.
123. Philippi A., et al. Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis. BMC Medical Genetics 2007, 8:74.
124. Piggot J., et al. Neural systems approaches to the neurogenetics of autism spectrum disorders. Neuroscience 2009, 164(1):247-256.
125. Pinto D., et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010, 466(7304):368-372.
126. Poot M., et al. Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder. Neurogenetics 2010, 11(1):81-89.
127. Powell E.M., Mars W.M., Levitt P. Hepatocyte growth factor/scatter factor is a motogen for interneurons migrating from the ventral to dorsal telencephalon. Neuron 2001, 30(1):79-89.
128. Qiao Y., et al. Phenomic determinants of genomic variation in autism spectrum disorders. Journal of Medical Genetics 2009, 46(10):680-688.
129. Qin J., et al. Association study of SHANK3 gene polymorphisms with autism in Chinese Han population. BMC Medical Genetics 2009, 10:61.
130. Rabionet R., et al. Analysis of the autism chromosome 2 linkage region: GAD1 and other candidate genes. Neuroscience Letters 2004, 372(3):209-214.
131. Rabionet R., et al. Lack of association between autism and SLC25A12. American Journal of Psychiatry 2006, 163(5):929-931.
132. Ramamoorthy S., et al. Antidepressant- and cocaine-sensitive human serotonin transporter: molecular cloning, expression, and chromosomal localization. Proceedings of the National Academy of Sciences of the United States of America 1993, 90(6):2542-2546.
133. Ramoz N., et al. Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism. American Journal of Psychiatry 2004, 161(4):662-669.
134. Ramoz N., et al. Lack of evidence for association of the serotonin transporter gene SLC6A4 with autism. Biological Psychiatry 2006, 60(2):186-191.
135. Ramoz N., et al. Family-based association study of TPH1 and TPH2 polymorphisms in autism. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2006, 141B(8):861-867.
136. Ramoz N., et al. An analysis of candidate autism loci on chromosome 2q24-q33: evidence for association to the STK39 gene. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2008, 147B(7):1152-1158.
137. Rehnstrom K., et al. No association between common variants in glyoxalase 1 and autism spectrum disorders. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2008, 147B(1):124-127.
138. Robinson P.N. Whole-exome sequencing for finding de novo mutations in sporadic mental retardation. Genome Biology 2010, 11(12):144.
139. Rossi E., et al. A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. European Journal of Medical Genetics 2008, 51(6):631-638.
140. Sacco R., et al. Case-control and family-based association studies of candidate genes in autistic disorder and its endophenotypes: TPH2 and GLO1. BMC Medical Genetics 2007, 8:11.
141. Sakurai T., et al. Association analysis of the NrCAM gene in autism and in subsets of families with severe obsessive-compulsive or self-stimulatory behaviors. Psychiatric Genetics 2006, 16(6):251-257.
142. Sanders S. Whole-exome sequencing: a powerful technique for identifying novel genes of complex disorders. Clinical Genetics 2011, 79(2):132-133.
143. Scherer S.W., et al. Human chromosome 7: DNA sequence and biology. Science 2003, 300(5620):767-772.
144. Sebat J., et al. Strong association of de novo copy number mutations with autism. Science 2007, 316(5823):445-449.
145. Segurado R., et al. Confirmation of association between autism and the mitochondrial aspartate/glutamate carrier SLC25A12 gene on chromosome 2q31. American Journal of Psychiatry 2005, 162(11):2182-2184.
146. Serajee F.J., Zhong H., Mahbubul H.A. Association of Reelin gene polymorphisms with autism. Genomics 2006, 87(1):75-83.
147. Shao Y., et al. Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder. American Journal of Human Genetics 2002, 70(4):1058-1061.
148. Shao Y., et al. Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes. American Journal of Human Genetics 2003, 72(3):539-548.
149. Shen Y., et al. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics 2010, 125(4):e727-e735.
150. Shimizu E., et al. NMDA receptor-dependent synaptic reinforcement as a crucial process for memory consolidation. Science 2000, 290(5494):1170-1174.
151. Shinawi M., et al. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay: behavioural problems, dysmorphism, epilepsy, and abnormal head size. Journal of Medical Genetics 2010, 47(5):332-341.
152. Shuang M., et al. Family-based association study between autism and glutamate receptor 6 gene in Chinese Han trios. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2004, 131B(1):48-50.
153. Silverman J.M., et al. Autism-related routines and rituals associated with a mitochondrial aspartate/glutamate carrier SLC25A12 polymorphism. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2008, 147(3):408-410.
154. Skaar D.A., et al. Analysis of the RELN gene as a genetic risk factor for autism. Molecular Psychiatry 2005, 10(6):563-571.
155. Sousa I., et al. MET and autism susceptibility: family and case-control studies. European Journal of Human Genetics 2009, 17(6):749-758.
156. Steffenburg S., et al. A twin study of autism in Denmark: Finland, Iceland, Norway and Sweden. Journal of Child Psychology and Psychiatry and Allied Disciplines 1989, 30(3):405-416.
157. Strauss K.A., et al. Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. New England Journal of Medicine 2006, 354(13):1370-1377.
158. Streit A.C., Stern C.D. Competence for neural induction: HGF/SF, HGF1/MSP and the c-Met receptor. Ciba Foundation Symposium 1997, 212:155-165. (Discussion 165-168).
159. Sutcliffe J.S., et al. Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures. BMC Genomics 2003, 4(1):15.
160. Sutcliffe J.S., et al. Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors. American Journal of Human Genetics 2005, 77(2):265-279.
161. Szatmari P., et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics 2007, 39(3):319-328.
162. Takumi T. A humanoid mouse model of autism. Brain Development 2010, 32(9):753-758.
163. Talebizadeh Z., et al. Do known mutations in neuroligin genes (NLGN3 and NLGN4) cause autism?. Journal of Autism and Developmental Disorders 2004, 34(6):735-736.
164. Talebizadeh Z., et al. Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism. Journal of Medical Genetics 2006, 43(5):e21.
165. Tordjman S., et al. Role of the serotonin transporter gene in the behavioral expression of autism. Molecular Psychiatry 2001, 6(4):434-439.
166. Turunen J.A., et al. Mitochondrial aspartate/glutamate carrier SLC25A12 gene is associated with autism. Autism Research 2008, 1(3):189-192.
167. Van Naarden B.K., et al. Evaluation of a methodology for a collaborative multiple source surveillance network for autism spectrum disorders - Autism and Developmental Disabilities Monitoring Network: 14 sites, United States, 2002. MMWR. Surveillance Summaries 2007, 56(1):29-40.
168. Vincent J.B., et al. Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2004, 129B(1):82-84.
169. Vissers L.E., et al. A de novo paradigm for mental retardation. Nature Genetics 2010, 42(12):1109-1112.
170. Wang K., et al. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 2009, 459(7246):528-533.
171. Weiss L.A., et al. A genome-wide linkage and association scan reveals novel loci for autism. Nature 2009, 461(7265):802-808.
172. Wermter A.K., et al. No evidence for involvement of genetic variants in the X-linked neuroligin genes NLGN3 and NLGN4X in probands with autism spectrum disorder on high functioning level. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2008, 147B(4):535-537.
173. Williams J.G., Higgins J.P., Brayne C.E. Systematic review of prevalence studies of autism spectrum disorders. Archives of Disease in Childhood 2006, 91(1):8-15.
174. Wu S., et al. Lack of evidence for association between the serotonin transporter gene (SLC6A4) polymorphisms and autism in the Chinese trios. Neuroscience Letters 2005, 381(1-2):1-5.
175. Wu S., et al. Positive association of the oxytocin receptor gene (OXTR) with autism in the Chinese Han population. Biological Psychiatry 2005, 58(1):74-77.
176. Wu S., et al. Association of the neuropilin-2 (NRP2) gene polymorphisms with autism in Chinese Han population. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2007, 144B(4):492-495.
177. Wu Y.Y., et al. Lack of evidence to support the glyoxalase 1 gene (GLO1) as a risk gene of autism in Han Chinese patients from Taiwan. Progress in Neuro-Psychopharmacology and Biological Psychiatry 2008, 32(7):1740-1744.
178. Yamasue H., et al. Oxytocin: sexually dimorphic features of the social brain, and autism. Psychiatry and Clinical Neurosciences 2009, 63(2):129-140.
179. Yan J., et al. Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients. Molecular Psychiatry 2005, 10(4):329-332.
180. Yan J., et al. Analysis of the neuroligin 4Y gene in patients with autism. Psychiatric Genetics 2008, 18(4):204-207.
181. Ylisaukko-oja T., et al. Analysis of four neuroligin genes as candidates for autism. European Journal of Human Genetics 2005, 13(12):1285-1292.
182. Yoo H.K., et al. Microsatellite marker in gamma - aminobutyric acid - a receptor beta 3 subunit gene and autism spectrum disorders in Korean trios. Yonsei Medical Journal 2009, 50(2):304-306.
183. Zhang H., et al. Reelin gene alleles and susceptibility to autism spectrum disorders. Molecular Psychiatry 2002, 7(9):1012-1017.
184. Zhang C., et al. A neuroligin-4 missense mutation associated with autism impairs neuroligin-4 folding and endoplasmic reticulum export. Journal of Neuroscience 2009, 29(35):10843-10854.
185. Zhong N., et al. 5-HTTLPR variants not associated with autistic spectrum disorders. Neurogenetics 1999, 2(2):129-131.