Association Between Microdeletion and Microduplication at 16p11.2 and Autism

Twin and family studies have shown that autism is approximately 90% heritable, and in about 10% of patients, the disorder can be explained by genetic syndromes and known chromosomal anomalies. The present study is an initial component of a genome-wide associational analysis of families from the Autism Genetic Resource Exchange (AGRE). Two novel algorithms were used to search for recurrent copy-number variations in genotype data from 751 multiplex families with autism. Particular recurrent de novo events were further examined in clinical test data from Children's Hospital Boston and in a large population study carried out in Iceland. Among the AGRE families studied were 5 instances of a de novo deletion of 593…