Phelan-McDermid Syndrome (PMS) is a rare genetic syndrome in which one copy of the q13 portion of chromosome 22 is missing. The neurological and psychiatric phenotypes are due to loss of the SHANK3 gene contained in this region of the genome. Mutations in the SHANK3 gene also produce a syndrome with the neurological and behavioral aspects of PMS.
News & Events
New study on IGF-1 by researchers at the Seaver Autism Center
Drs. Ozlem Bozdagi Gunal, Teresa Tavassoli, and Joseph D. Buxbaum have recently published a study in Molecular Autism detailing their observation of injections of human insulin-like growth factor-1 (IGF-1) in to a mouse model of ASD and of developmental delay, which they had previously reported in Shank-3 deficient mice. They observed significant beneficial effects, and [...]
Testing & Evaluation
Families coping with a diagnosis of Phelan-McDermid Syndrome, 22q13 Deletion Syndrome, or a SHANK3 mutation or who are looking to learn more about the condition have resources available to them.
The Seaver Autism Center at the Icahn School of Medicine at Mount Sinai
The Seaver Autism Center offers comprehensive assessment and care for people with developmental delay, including autism spectrum conditions and associated disorders. The Center works with families affected with Phelan-McDermid Syndrome, 22q13 Deletion Syndrome, and SHANK3 mutations.