Rare Disease Report

Phelan-McDermid Syndrome, Autism, and SHANK3

NOVEMBER 18, 2014
James Radke

Phelan-McDermid syndrome  is a genetic syndrome caused by disruption of the SHANK3/ProSAP2 gene on the terminal end of chromosome 22. There is a wide range of symptoms in children with Phelan-McDermid syndrome but it has many similarities to autism. As such, it is hopeful that much of the research in Phelan-McDermid syndrome and SHANK3 mutations will not only help children with Phelan-McDermid syndrome but also those with autism.

In this interview, Alexander Kolevzon, MD of the Seaver Autism Center at Mount Sinai Hospital talks about the SHANK3 gene and its importance to both Phelan-McDermid syndrome and possibly autism.

Stay informed on the latest rare disease news and developments by signing up for our newsletter.
Copyright © RareDR 2013-2018 Rare Disease Communications. All Rights Reserved.