Phelan-McDermid Syndrome (PMS)

NOTE: The distribution refers to a collection of studies organized by disorder or theme (see FAQ).  It is important to note that not all individuals in the distribution have DNA available.

The National Institute of Mental Health (NIMH) Center for Collaborative Studies of Mental Disorders has established cell lines and DNA for this initiative since 1998. The NIMH collection now contains a vast array of samples from families with schizophrenia, bipolar disorder, Alzheimer's disease, autism, obsessive-compulsive disorder, depression, and ADHD. Many important discoveries have been made by investigators accessing these collections. There is a catalog listing cells available under the NIMH program.

The Center for Collaborative Genomic Studies on Mental Disorders is a collaboration of Rutgers University RUCDR, Washington University in St. Louis, and the University of Southern California's Information Sciences Institute. It is funded by a grant from the National Institute Mental Health.

Phelan-McDermid Syndrome (PMS) is a genetic syndrome caused by disruption of the SHANK3/ProSAP2 gene on the terminal end of chromosome 22.  The most common form of PMS is caused by a de novo chromosomal deletion.  For this reason, the original name for PMS was 22q13 deletion syndrome.

Data and biomaterials (cell lines and DNA samples) are available to qualified investigators and may be accessed by following a set of instructions.

List of Studies

Available for Download

Study Title Distributions PIs Grants Sites Target Sample Size GWAS Notes
Study 115 Exploring the Neuronal Phenotype of Autism Spectrum Disorders Using Induced Pluri Phelan-McDermid Syndrome Hallmayer, Dolmetsch R33MH087898 726 & 734 150

In Progress*

Study Title Distributions PIs Grants Sites Target Sample Size GWAS Notes
Study 115 Exploring the Neuronal Phenotype of Autism Spectrum Disorders Using Induced Pluri Phelan-McDermid Syndrome Hallmayer, Dolmetsch R33MH087898 726 & 734 150

*Studies in progress includes those available for download for which some future action is required

Rutgers University Rutgers University USC Information Sciences Institute Washington University in St.Louis National Institute of Mental Health