Abstract: The three ?-neurexins have similar roles in synaptogenesis and interact with the neuroligins. Mutations located within the gene encoding neurexin 1 have been identified as molecular markers associated with autism and autism-related disorders. The estimated attributable risk is 2%. The invention provides methods of diagnosing or predicting susceptibility to developing autism in an individual by determining the presence or absence of one or more genetic variant of a neurexin 1 gene in an individual.

Abstract: The three ?-neurexins have similar roles in synaptogenesis and interact with the neuroligins. Mutations located within the gene encoding neurexin 1 have been identified as molecular markers associated with autism and autism-related disorders. The estimated attributable risk is 2%. The invention provides methods of diagnosing or predicting susceptibility to developing autism in an individual by determining the presence or absence of one or more genetic variant of a neurexin 1 gene in an individual.

Abstract: The present invention relates generally to the field of human genetics. Specifically, the present invention relates to methods and materials used to detect a human sporadic DCM predisposing gene, specifically the dystrophin gene, some mutant alleles of which cause susceptibility to sporadic DCM. More specifically, the invention relates to germline mutations in the dystrophin gene and their use in the diagnosis of predisposition to sporadic DCM. The invention also relates to the prophylaxis and/or therapy of sporadic DCM associated with a mutation in the dystrophin gene. The invention further relates to the screening of drugs for sporadic DCM therapy. Finally, the invention relates to the screening of the dystrophin gene for mutations/alterations, which are useful for diagnosing the predisposition to sporadic DCM.