Genetic Alterations Associated with Autism and the Autistic Phenotype and Methods of Use Thereof for the Diagnosis and Treatment of Autism

摘要

Compositions and methods for the detection and treatment of autism and autistic spectrum disorder are provided.

主权项

1. A method for detecting a propensity for developing autism or autistic spectrum disorder, the method comprising:
a) providing a plurality of CNVs present in autistic or ASD patients identified using genome wide association studies of large patient cohorts, said CNVs being listed in Table II; a) obtaining a sample from a patient and isolating nucleic acid therefrom; b) identifying the presence or absence of at least one deletion containing CNV in a target polynucleotide, wherein if said CNV is present, said patient has an increased risk for developing autism and/or autistic spectrum disorder.