The search for autism disease genes.
Autism is a heritable disorder characterized by phenotypic and genetic complexity. This review begins by surveying current linkage, gene association, and cytogenetic studies performed with the goal of identifying autism disease susceptibility variants. Though numerous linkages and associations have been identified, they tend to diminish upon closer examination or attempted replication. The review therefore explores challenges to current methodologies presented by the complexities of autism that might underlie some of the current difficulties, and finishes by describing emerging phenotypic, statistical, and molecular investigational approaches that offer hope of overcoming those challenges.
Wassink
Thomas H
TH
Department of Psychiatry, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA. thomas-wassink@uiowa.edu
Brzustowicz
Linda M
LM
Bartlett
Christopher W
CW
Szatmari
Peter
P
D001321:Autistic Disorder / Q000150:complications / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D003582:Cytogenetics / Q000379:methods; D015870:Gene Expression / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D006824:Hybridization, Genetic; D007806:Language Disorders / Q000150:complications / Q000235:genetics; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods; D010641:Phenotype