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.

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New Grant Award to Study Effects of Shank3 Deficiency

The Seaver Autism Center has recently received a grant award from the National Institute of Mental Health to study the effects of Shank3 deficiency. The project will be led by Dr. Joseph Buxbaum, Director of the Seaver Autism Center, and is titled “Prefrontal function in the Shank3-deficient rat: A first rat model for ASD.” The [...]

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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.

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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.

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