The genetics of autism spectrum disorders

被引：0
作者：
Dorothy E. Grice
Joseph D. Buxbaum
机构：
[1] UMDNJ/New Jersey Medical School,Department of Psychiatry
[2] Mount Sinai School of Medicine,Laboratory of Molecular Neuropsychiatry, Departments of Psychiatry, Neuroscience and Ceriatrics and Adult Development
来源：
NeuroMolecular Medicine | 2006年 / 8卷
关键词：
Association; autism spectrum disorders; genetics; linkage; pervasive developmental disorders; susceptibility locus;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Epidemiological twin studies demonstrate that autism spectrum disorders (ASDs) represent genetic disorders. Subsequent analyses indicate that the causes of ASDs include less common single-gene mutations and chromosomal abnormalities, as well as ASDs caused by multiple interacting genes of weak effect. Genome-wide linkage analysis has identified several susceptibility loci for the ASDs, and positional and functional candidate genes have been identified that appear to represent susceptibility genes for the ASDs. Analysis of additional larger samples and the use of genome-wide association and high-throughput variant detection will lead to the identification of further genes for ASDs.
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页码：451 / 460
页数：9
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  • [1] Bailey A.(2003)Implications of the broader phenotype for concepts of autism Novartis Found Symp. 251 26-35
  • [2] Parr J.(1995)Autism as a strongly genetic disorder: evidence from a British twin study Psychol. Med. 25 63-77
  • [3] Bailey A.(2005)Support for the Homeobox Transcription Factor Gene ENGRAILED 2 as an Autism Spectrum Disorder Susceptibility Locus Am. J. Hum. Genet. 77 851-868
  • [4] Le Couteur A.(2002)Increased rateoftwins among affected sibling pairs with autism Am. J. Hum. Genet. 70 1381-1383
  • [5] Gottesman I.(2006)SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample Eur. J. Hum. Genet. 14 123-126
  • [6] Benayed R.(2001)Disruption of the ProSAP2 gene in at (12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome Am. J. Hum. Genet. 69 261-268
  • [7] Gharani N.(2002)Association between a GABRB3 polymorphism and autism Mol. Psychiatry 7 311-316
  • [8] Rossman I.(2005)Silencing of the Mammalian X Chromosome Annu. Rev. Genomics Hum. Genet. 6 69-92
  • [9] Betancur C.(2005)Specific genetic disorders and autism: clinical contribution towards their identification J. Autism. Dev. Disord. 35 103-116
  • [10] Leboyer M.(1998)Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers Am. J. Hum. Genet. 62 1077-1083
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