Molecular Analysis of the Angelman Syndrome: The role of UBE3A deletions
About 90% of individuals believed to have AS will have abnormal genetic tests that identify one of four mechanisms that can disrupt UBE3A function. There are however about 10% of individuals with apparent AS who have negative genetic testing and the question is often raised as to whether other types of undetected genetic mechanisms might be present. ASF supported this study designed to screen for very small deletion regions located within UBE3A (that might have escaped detection previously). The results of the studies showed that it is rare for such small deletions to occur and/or to be missed by existing genetic testing. This project helped clarify which genetic mechanisms do and do not account for a significant number of individuals with AS.