Edwin H Cook Jr, University of Chicago, Chicago, Illinois, USA
Published online: July 2006
DOI: 10.1038/npg.els.0005159
Autistic disorder is a highly heritable complex genetic disorder. First-degree relatives are at increased risk for a broader phenotype of less severe impairments in social and communication development, as well as restricted and repetitive behaviors.
Keywords: autism; complex genetics; multiplicative inheritance; pervasive developmental disorders
| Further Reading | |
| Auranen M, Vanhala R, Varilo T, et al. (2002) A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25–27. American Journal of Human Genetics 71: 777–790. | |
| Bailey A, Le Couteur A, Gottesman I, et al. (1995) Autism as a strongly genetic disorder: evidence from a British twin study. Psychological Medicine 25: 63–78. | |
| Barrett S, Beck JC, Bernier R, et al. (1999) An autosomal genomic screen for autism. American Journal of Medical Genetics 88: 609–615. | |
| Buxbaum JD, Silverman JM, Smith CJ, et al. (2001) Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity. American Journal of Human Genetics 68: 1514–1520. | |
| Buxbaum J, Silverman J, Smith C, et al. (2002) Association between a GABRB3 polymorphism and autism. Molecular Psychiatry 7: 311–316. | |
| Chakrabarti S and Fombonne E (2001) Pervasive developmental disorders in preschool children. Journal of the American Medical Association 285: 3093–3099. | |
| Cook E and Leventhal B (1996) The serotonin system in autism. Current Opinion in Pediatrics 8: 348–354. | |
| Cook EH (2001) Genetics of autism. Child and Adolescent Psychiatric Clinics of North America 10: 333–350. | |
| Folstein S and Rutter M (1977) Infantile autism: a genetic study of 21 twin pairs. Journal of Child Psychology, Psychiatry and Allied Disciplines 18: 297–321. | |
| Folstein SE and Rosen-Sheidley B (2001) Genetics of autism: complex etiology for a heterogeneous disorder. Nature Reviews Genetics 2: 943–955. | |
| International Molecular Genetic Study of Autism Consortium (1998) A full genome screen for autism with evidence for linkage to a region on chromosome 7q. Human Molecular Genetics 7: 571–578. | |
| International Molecular Genetic Study of Autism Consortium (2001) A genome wide screen for autism; strong evidence for linkage to chromosomes 2q, 7q and 16p. American Journal of Human Genetics 69: 570–581. | |
| Jorde L, Hasstedt S, Ritvo E, et al. (1991) Complex segregation analyses of autism. American Journal of Human Genetics 49: 932–938. | |
| Lamb JA, Moore J, Bailey A and Monaco AP (2000) Autism: recent molecular genetic advances. Human Molecular Genetics 9: 861–868. | |
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| Web Links | |
| ePath Gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3); Locus ID: 2562. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=2562 | |
| ePath Reelin (RELN); Locus ID: 5649. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=5649 | |
| ePath Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4); Locus ID: 6532. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=6532 | |
| ePath Ubiquitin protein ligase E3A (human papilloma virus E6-associated protein, Angelman syndrome) (UBE3A); Locus ID: 7337. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=7337 | |
| ePath Wingless-type MMTV integration site family member 2 (WNT2); Locus ID: 7472. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=7472 | |
| ePath Gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3); MIM number: 137192. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?137192 | |
| ePath Reelin (RELN); MIM number: 600514. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?600514 | |
| ePath Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4); MIM number: 182138. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?182138 | |
| ePath Ubiquitin protein ligase E3A (human papilloma virus E6-associated protein, Angelman syndrome) (UBE3A); MIM number: 601623. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?601623 | |
| ePath Wingless-type MMTV integration site family member 2 (WNT2); MIM number: 147870. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?147870 | |
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