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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Absence of strong strain effects in behavioral analyses of Shank3-deficient mice

Seaver Autism Center researchers at Icahn School of Medicine at Mount Sinai have published a study in Disease Models and Mechanisms demonstrating that the range of mouse phenotypes caused by a Shank3 gene mutation does not depend on varied genetic backgrounds. This finding indicates the high level of transferability of research findings in mouse models [...]

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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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