Autism genetics: Methodological issues and experimental design.
Autism is a complex neuropsychiatric disorder of developmental origin, where multiple genetic and environmental factors likely interact resulting in a clinical continuum between "affected" and "unaffected" individuals in the general population. During the last two decades, relevant progress has been made in identifying chromosomal regions and genes in linkage or association with autism, but no single gene has emerged as a major cause of disease in a large number of patients. The purpose of this paper is to discuss specific methodological issues and experimental strategies in autism genetic research, based on fourteen years of experience in patient recruitment and association studies of autism spectrum disorder in Italy.
Department of Child Neuropsychiatry and Laboratory of Molecular Psychiatry and Neurogenetics, University "Campus Bio-Medico", Rome, I-00128, Italy.|Department of Experimental Neurosciences, I.R.C.C.S. "Fondazione Santa Lucia", Rome, I-00143, Italy.
Roberto
R
Sacco
Department of Child Neuropsychiatry and Laboratory of Molecular Psychiatry and Neurogenetics, University "Campus Bio-Medico", Rome, I-00128, Italy.|Department of Experimental Neurosciences, I.R.C.C.S. "Fondazione Santa Lucia", Rome, I-00143, Italy.
Carla
C
Lintas
Department of Child Neuropsychiatry and Laboratory of Molecular Psychiatry and Neurogenetics, University "Campus Bio-Medico", Rome, I-00128, Italy. a.persico@unicampus.it.|Department of Experimental Neurosciences, I.R.C.C.S. "Fondazione Santa Lucia", Rome, I-00143, Italy. a.persico@unicampus.it.
Antonio M
AM
Persico
D001321:Autistic Disorder / Q000235:genetics*; D035843:Biomedical Research / Q000639:trends; D020022:Genetic Predisposition to Disease; D006801:Humans; D010641:Phenotype
autistic disorder; endophenotype; genetic association; genetics; pervasive developmental disorders