Family-based association and molecular genetic analysis of genes implicated in the aetiology of autism

Abstract

Autism is an early onset neurodevelopmental disorder affecting three core areas of behaviour - communication, social behaviour and restricted/repetitive behaviour. Although family and twin studies indicate a genetic contribution to the aetiology of autism, definitive susceptibility genes have yet to be identified. This research applied a candidate gene approach, using a family-based association strategy. Selection of candidate genes was informed by three areas of autism research - (i) rare mutations identified in individuals with autism, (ii) results of autism linkage studies and (iii) biological pathways highlighted by pathophysiological studies in autism. Data from association findings was then followed up using assays to determine the biological relevance of genetic variation.