The genetic architecture of autism and related disorders

Clinical Neuroscience Research

Volumn 6, Issue 3-4, 2006, Pages 161-168

  Grice, D E ^a   Buxbaum, J D ^b  

^a RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Association; Autism spectrum disorders; Genetics; Linkage; Pervasive developmental disorders; Susceptibility locus

Indexed keywords

4 AMINOBUTYRIC ACID RECEPTOR; FRAGILE X MENTAL RETARDATION PROTEIN; METHYL CPG BINDING PROTEIN 2; SEROTONIN TRANSPORTER; TRANSCRIPTION FACTOR; TUBERIN;

ARTICLE; ASPERGER SYNDROME; AUTISM; CHROMOSOME ABERRATION; CLINICAL GENETICS; DIZYGOTIC TWINS; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC DISORDER; GENETIC SUSCEPTIBILITY; GENOME ANALYSIS; HUMAN; LINKAGE ANALYSIS; MONOZYGOTIC TWINS; NEUROPATHOLOGY; PENETRANCE; PERVASIVE DEVELOPMENTAL DISORDER NOT OTHERWISE SPECIFIED; PRIORITY JOURNAL; TWIN CONCORDANCE;

EID: 33750211839     PISSN: 15662772     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cnr.2006.06.004     Document Type: Article

References (52)

1. Piven J., et al. Broader autism phenotype: evidence from a family history study of multiple-incidence autism families. Am J Psychiatry 154 2 (1997) 185-190
2. Pickles A., et al. Variable expression of the autism broader phenotype: findings from extended pedigrees. J Child Psychol Psychiatry 41 4 (2000) 491-502
3. Dawson G., et al. Defining the broader phenotype of autism: genetic, brain, and behavioral perspectives. Dev Psychopathol 14 3 (2002) 581-611
4. Bailey A., and Parr J. Implications of the broader phenotype for concepts of autism. Novartis Found Symp 251 (2003) 26-35 discussion 36-47, 109-11, 281-97
5. Bailey A., et al. Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med 25 1 (1995) 63-77
6. Folstein S., and Rutter M. Genetic influences and infantile autism. Nature 265 5596 (1977) 726-728
7. Folstein S., and Rutter M. Infantile autism: a genetic study of 21 twin pairs. J Child Psychol Psychiatry 18 4 (1977) 297-321
8. Steffenburg S., et al. A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. J Child Psychol Psychiatry 30 3 (1989) 405-416
9. Folstein S.E., and Rosen-Sheidley B. Genetics of autism: complex aetiology for a heterogeneous disorder. Nat Rev Genet 2 12 (2001) 943-955
10. Veenstra-Vanderweele J., Christian S.L., and Cook Jr. E.H. Autism as a paradigmatic complex genetic disorder. Annu Rev Genomics Hum Genet 5 (2004) 379-405
11. Ham A.L., et al. Does genotype predict phenotype in Rett syndrome?. J Child Neurol 20 9 (2005) 768-778
12. Naidu S., et al. Clinical variability in Rett syndrome. J Child Neurol 18 10 (2003) 662-668
13. Segawa M., and Nomura Y. Rett syndrome. Curr Opin Neurol 18 2 (2005) 97-104
14. Chow J.C., et al. Silencing of the mammalian X chromosome. Annu Rev Genomics Hum Genet (2005)
15. Centerwall W.R., and Benirschke K. Male tortoiseshell and calico (T-C) cats. Animal models of sex chromosome mosaics, aneuploids, polyploids, and chimerics. J Hered 64 5 (1973) 272-278
16. Shin T., et al. A cat cloned by nuclear transplantation. Nature 415 6874 (2002) 859
17. Westhusin M., et al. Cloning companion animals (horses, cats, and dogs). Cloning Stem Cells 5 4 (2003) 301-317
18. Lord C., Rutter M., and 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 24 5 (1994) 659-685
19. Lord C., 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 30 3 (2000) 205-223
20. Kanner L. The birth of early infantile autism. J Autism Child Schizophr 3 2 (1973) 93-95
21. Eagle R.S. Commentary: further commentary on the debate regarding increase in autism in California. J Autism Dev Disord 34 1 (2004) 87-88
22. Rutter M. Aetiology of autism: findings and questions. J Intellect Disabil Res 49 Pt. 4 (2005) 231-238
23. Greenberg D.A., et al. Excess of twins among affected sibling pairs with autism: implications for the etiology of autism. Am J Hum Genet 69 5 (2001) 1062-1067
24. Betancur C., Leboyer M., and Gillberg C. Increased rate of twins among affected sibling pairs with autism. Am J Hum Genet 70 5 (2002) 1381-1383
25. Hallmayer J., et al. On the twin risk in autism. Am J Hum Genet 71 4 (2002) 941-946
26. Glasson E.J., et al. Perinatal factors and the development of autism: a population study. Arch Gen Psychiatry 61 6 (2004) 618-627
27. Cohen D., et al. Specific genetic disorders and autism: clinical contribution towards their identification. J Autism Dev Disord 35 1 (2005) 103-116
28. Dykens E.M., Sutcliffe J.S., and Levitt P. Autism and 15q11-q13 disorders: behavioral, genetic, and pathophysiological issues. Ment Retard Dev Disabil Res Rev 10 4 (2004) 284-291
29. Bonaglia M.C., et al. Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. Am J Hum Genet 69 2 (2001) 261-268
30. Wilson H.L., et al. Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms. J Med Genet 40 8 (2003) 575-584
31. Ropers H.H., and Hamel B.C. X-linked mental retardation. Nat Rev Genet 6 1 (2005) 46-57
32. Wassink T.H., et al. The search for autism disease genes. Ment Retard Dev Disabil Res Rev 10 4 (2004) 272-283
33. Vorstman J.A., et al. Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Mol Psychiatry (2005)
34. Cook Jr. E.H., et al. Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers. Am J Hum Genet 62 5 (1998) 1077-1083
35. Buxbaum J.D., et al. Association between a GABRB3 polymorphism and autism. Mol Psychiatry 7 3 (2002) 311-316
36. Goring H.H., Terwilliger J.D., and Blangero J. Large upward bias in estimation of locus-specific effects from genomewide scans. Am J Hum Genet 69 6 (2001) 1357-1369
37. Lohmueller K.E., et al. Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat Genet 33 2 (2003) 177-182
38. Ma D.Q., et al. Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism. Am J Hum Genet 77 3 (2005) 377-388
39. Devlin B., et al. Autism and the serotonin transporter: the long and short of it. Mol Psychiatry (2005)
40. Coutinho A.M., et al. Variants of the serotonin transporter gene (SLC6A4) significantly contribute to hyperserotonemia in autism. Mol Psychiatry 9 3 (2004) 264-271
41. Sutcliffe J.S., et al. Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors. Am J Hum Genet 77 2 (2005) 265-279
42. Gharani N., et al. Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder. Mol Psychiatry 9 5 (2004) 474-484
43. Benayed R., et al. Support for the homeobox transcription factor gene ENGRAILED 2 as an autism spectrum disorder susceptibility locus. Am J Hum Genet 77 5 (2005) 851-868
44. Zhong H., et al. No association between the EN2 gene and autistic disorder. J Med Genet 40 1 (2003) e4
45. Ramoz N., et al. Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism. Am J Psychiatry 161 4 (2004) 662-669
46. Segurado R., et al. Confirmation of association between autism and the mitochondrial aspartate/glutamate carrier SLC25A12 gene on chromosome 2q31. Am J Psychiatry 162 11 (2005) 2182-2184
47. Blasi F., et al. SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample. Eur J Hum Genet (2005)
48. Jalil M.A., et al. Reduced N-acetylaspartate levels in mice lacking aralar, a brain- and muscle-type mitochondrial aspartate-glutamate carrier. J Biol Chem 280 35 (2005) 31333-31339
49. Courchesne E., and Pierce K. Why the frontal cortex in autism might be talking only to itself: local over-connectivity but long-distance disconnection. Curr Opin Neurobiol 15 2 (2005) 225-230
50. Miles J.H., et al. Essential versus complex autism: definition of fundamental prognostic subtypes. Am J Med Genet A 135 2 (2005) 171-180
51. Miles J.H., and Hillman R.E. Value of a clinical morphology examination in autism. Am J Med Genet 91 4 (2000) 245-253
52. Francis K. Autism interventions: a critical update. Dev Med Child Neurol 47 7 (2005) 493-499