SYNGAP1 DYSFUNCTIONS AND USES THEREOF IN DIAGNOSTIC AND THERAPEUTIC APPLICATIONS FOR MENTAL RETARDATION

摘要

The invention identifies Syngap1 dysfunctions as causative of mental retardation. Described are methods of detecting mental retardation and methods of detecting non- syndromic mental retardation (NSMR) in a human subject. Particular methods comprise sequencing a human subject's genomic DNA for comparison with a control sequence from an unaffected individual. Also described are probes, kits, antibodies and isolated mutated Syngap1 proteins.